Feeds:
Posts
Comments

Archive for the ‘Conference Coverage with Social Media’ Category

Real Time Coverage @BIOConvention #BIO2019: What’s Next: The Landscape of Innovation in 2019 and Beyond. 3-4 PM June 3 Philadelphia PA

Reporter: Stephen J. Williams, PhD @StephenJWillia2

 

Results from Clarivate
In 2018 most of deals were in CART area but now we are seeing more series A rounds that are on novel mechanisms as well as rare diseases.  US is still highest in venture capital series A but next is China. 10 of top ex US VC are from China, a whole lot of money.
Preclinical is very strong for US VC but China VC is focused on clinical.  First time this year we see US series A break above 100.  But ex US the series A is going down.  Although preclinical deals in US is coming back not like as good as in 2006.  But alot of > 1 billion $ deals.  Most of money into mAbs and protein therapy;  antisense is big and cell therapy is big too; small molecule not as much
ClearView Healthcare
Which innovation classes attracted VC in 2018?
  • Oncology drives a disproportionate focus could be driven by pharma focus on oncology; however there is some focus on neuro and infectious disease
  • therapeutic classes: shift to differentiated technology…. companies want technologic platforms not just drugs.  Nucleic Acid tech and antibody tech is high need platforms.  Startups can win by developing a strong platform not just a drug
There are pros and cons of developing a platform company versus a focused company.  Many VCs have a portfolio and want something to fit in so look for a focused company and may not want a platform company.  Pfizer feels that when alot of money is available (like now) platform investing is fine but when money becomes limited they will focus on those are what will be needed to fill therapy gaps.  They believe buy the therapy and only rent the platform.
Merck does feel the way Pfizer does but they have separate ventures so they can look and license platforms.  they are active in looking at companies with new modalities but they are focused on the money so they feel best kept in hands of biotech not pharma.
At Celgene they were solely focused on approvals not platforms.  Alot of money is required to get these platforms to market.  Concentration for platform companies should be the VCs not partnering or getting bought out by pharma.  it seems from panel speakers from pharma that they are waiting for science to prove itself and waiting for favorable monetary environments (easy money).  However it seems they (big pharma) are indicating that money is drying up or at least expect it too.
At Axial and with VCs they feel it is important to paint a picture or a vision at the early stage.
At Ontogeny, they focus on evaluating assets especially and most important, ThE MANAGEMENT TEAM.  There are not that many great talented drug development management teams he feels out there even though great science out there.

Read Full Post »

Real Time Coverage @BIOConvention #BIO2019: After Trump’s Drug Pricing Blueprint: What Happens Next? A View from Washington; June 3 2019 1:00 PM Philadelphia PA

Reporter: Stephen J. Williams, PhD @StephenJWillia2

 

Speaker: Dan Todd, JD

Dan Todd is the Principal of Todd Strategy, LLC, a consulting firm founded in 2014 and based in Washington, DC. He provides legislative and regulatory strategic guidance and advocacy for healthcare stakeholders impacted by federal healthcare programs.

Prior to Todd Strategy, Mr. Todd was a Senior Healthcare Counsel for the Republican staff of the Senate Finance Committee, the Committee of jurisdiction for the Medicare and Medicaid programs. His areas of responsibility for the committee included the Medicare Part B and Part D programs, which includes physician, medical device, diagnostic and biopharmaceutical issues.

Before joining the Finance Committee, Mr. Todd spent several years in the biotechnology industry, where he led policy development and government affairs strategy. He also represented his companies’ interests with major trade associations such as PhRMA and BIO before federal and state representatives, as well as with key stakeholders such as physician and patient advocacy organizations.

Dan also served as a Special Assistant in the Office of the Administrator at the Centers for Medicare & Medicaid Services (CMS), the federal agency charged with the operation of the Medicare and Medicaid programs. While at CMS, Dan worked on Medicare Part B and Part D issues during the implementation of the Medicare Modernization Act from 2003 to 2005.

Cost efficiencies were never measured.

Removing drug rebates would cost 180 billion over 10 years. CBO came up with similar estimate.  Not sure what Congress will do. It appears they will keep the rebates in.

  • House  Dems are really going after PBMs; anytime the Administration makes a proposal goes right into CBO baseline estimates;  negotiations appear to be in very early stages and estimates are up in the air
  • WH close to meet a budget cap but then broke down in next day; total confusion in DC on budget; healthcare is now held up, especially the REBATE rule; : is a shame as panel agrees cost savings would be huge
  • they had initiated a study to tie the costs of PartB to international drug prices; meant to get at disparity on international drug prices; they currently are only mulling the international price index; other option is to reform Part B;  the proposed models were brought out near 2016 elections so not much done; unified agenda;
  • most of the response of Congress relatively publicly muted; a flat fee program on biologics will have big effect on how physicians and health systems paid; very cat and mouse game in DC around drug pricing
  • administration is thinking of a PartB “inflation cap”;  committees are looking at it seriously; not a rebate;  discussion of tiering of physician payments
  • Ways and Means Cmmtte:  proposing in budget to alleve some stresses on PartB deductable amounts;
  • PartD: looking at ways to shore it up; insurers 80% taxpayers 20% responsible; insurers think it will increase premiums but others think will reduce catastrophic costs; big part of shift in spending in Part D has been this increase in catastrophic costs
  • this week they may actually move through committees on this issue; Administration trying to use the budgetary process to drive this bargain;  however there will have to be offsets so there may be delays in process

Follow or Tweet on Twitter using the following @ and # (hashtags)

@pharma_BI

@AVIVA1950

@BIOConvention

@PCPCC

#BIO2019

#patientcost

#PrimaryCare

 

Other articles on this Open Access Journal on Healthcare Costs, Payers, and Patient Care Include:

The Arnold Relman Challenge: US HealthCare Costs vs US HealthCare Outcomes

Centers for Medicare & Medicaid Services announced that the federal healthcare program will cover the costs of cancer gene tests that have been approved by the Food and Drug Administration

Trends in HealthCare Economics: Average Out-of-Pocket Costs, non-Generics and Value-Based Pricing, Amgen’s Repatha and AstraZeneca’s Access to Healthcare Policies

Can Blockchain Technology and Artificial Intelligence Cure What Ails Biomedical Research and Healthcare

Live Conference Coverage @Medcity Converge 2018 Philadelphia: Oncology Value Based Care and Patient Management

Read Full Post »

Real Time Coverage @BIOConvention #BIO2019: International Cancer Clusters Showcase June 3, Philadelphia PA

Reporter: Stephen J. Williams PhD @StephenJWillia2

Updated on 07/08/2021

https://cancerdiscovery.aacrjournals.org/content/early/2021/07/01/2159-8290.CD-20-1741

Updated on 07/08/2021

https://medicalxpress.com/news/2021-07-cancer-wider-access-immunotherapy.html

Larry Blandford PharmD from Precision Medicine Group gave introduction about development of precision oncology medicine.  Talked about value and value determination for partnerships.

Company Pitches:

Kernal Biologics: Preclinical immunotherapy company developing mRNA therapeutics.  Their therapy only have activity in p53 deficient cells (messenger 2.0).  They identified, by screening, multiple mRNAs that have oncoselectivity; ONC-333 is their lead mRNA active in AML and NSCLC.  Looking for 5.5M seed $

Vaccibody AS: Vaccine technology from Oslo University to target antigen to antigen presenting cells.  They are targeting the myocytes and dimerize the antigen to MHC.  Targeting melanoma, certain cervical cancers, and hemotologic cancers.  Technology based on identified neoantigens obtained from tumor biopsy.Three vaccines: VB10.neo  VB10.16 against HPV cervical

Chimeric Therapeutics: developing CART to solid malignancies against CLEC14 (tumor endothelial marker), may make tumor susceptible to hypoxia.  Targeting pancreatic cancer, prelim results in mice , efficacy of 15%, working on 3rd generation CART

Memo Therapeutics: Antibody therapeutics; based on Dropzylla single B cell sorting and subsequent screening for mAb.  Targeting checkpoint inhibitors on solid tumors;  have a new target other than PD1; target undisclosed on NK cells and T cells; Early stage have academic partners; seeking 20Million Swiss Francs

Takeda Oncology: Chris Hurff Senior Director Business Development; they depend on partnerships as they feel internal RD is less effective.  They are diversifying their portfolio from small molecules. They have over 200 partnerships (132 in Boston). They are focusing on heme, lung, and Immunooncology. Partnering model: CEI (center external innovation) deals with both academic and small biotechs.  They have numerous partners including Shatto and MD Anderson.

Read Full Post »

Tweets and Re-Tweets by @Pharma_BI ‏and @AVIVA1950 at 2019 Petrie-Flom Center Annual Conference: Consuming Genetics: Ethical and Legal Considerations of New Technologies, Friday, May 17, 2019 from 8:00 AM to 5:00 PM EDT @Harvard_Law

 

Tweets by @Pharma_BI ‏and @AVIVA1950

  1.   Retweeted

    AMAZING conference on Genomics and Ethics

  2. Amazing Conference LIVE 2019 Petrie-Flom Center Annual Conference: : and Considerations of New Technologies, Friday, May 17, 2019 from 8:00 AM to 5:00 PM EDT via

  3. Concluding remark cited by ⁦⁩ ⁦ Great Panel on the Impact of Genetic Information new conceptual approach prioritizing parental autonomy with restriction built in

  4. ⁩ ⁦ NIPT test for fetal sex blood type Trisonomy Whole Genome-wide analysis routinization of procedure READY at Birth impact intrafamilial discrimination babySeqProject G2P ⁦

  5. Leila Jamal, NIAID Pre- Test Genetic Counseling – information and testing need, indication for testing Post-Test Informational Burden low vs high: Likely pathogenic, Pathogenic benign – natural history data potentially high impact

  6. Leila Jamal, NIAID benefit the patient, positive autonomy, benefiesence – how potentially impactful is the Test Information Nondirectiveness – Why? distance from eugenics + abortion politics persons and patient autonomy

  7. Leila Jamal, NIAID Genetic and Genomics Testing: Prenata, Pediatric, Vancer, other: Cardiology, Neurology, Hematology, Infectious diseases, pharmaco genomics, DTC, Ancestry

  8. Emily Qian, Genetic Counselor, Veritas Genetics – Physician-Mediated Elective Whole Genome Sequencing Tests: Impacts on Informed Consent DTC Physician-initiated Genetic Testing Physician-initiated DTC Informed consent is a process

  9. ⁩ ⁦ Recommendation based on best evidence guidelines available

  10. Natalie RamGenetic Genealogy and the Problem of Familial Forensic Identification Familial Forensic Identification – Privacy for information held by Telephone companies Involuntarily Identification by genetic data genetic markers

  11. Natalie Ram, Assistant Professor of Law, University of Baltimore School of Law – Genetic Genealogy and the Problem of Familial Forensic Identification Opt in to share genetic data on the platforms opt in national DB

  12. Natalie Ram, Univ of Baltimore School of Law Genetic relatedness is stickier than social relations Voluntary sharing of genetic information – no other party can protect genetic information of any person, thu, if shared voluntarily

  13. ⁩ ⁦ gene APO-E e-2, e-3, e-4 If e-4 variant risk AD is 40% 23andMe since 2011 rest for e-4 unlock result # copies of e-4 are present little clinical value post diagnosis recommendation do not depend on e-4

  14. Jonathan Kahn, Precision Medicine and the Resurgence of Race in Genomic Medicineprecision medicine – classification of individuals into subpopulations that differ in their susceptability to a particular disease

  15. Kif Augustine-Adams, BYU Law School – Generational Failures of Law and Ethics: Rape, Mormon Orthodoxy, the Revelatory Power of Ancestry DNAComplex Sorrows: Anscestry DNA – 20 Millions records. Complete anonymity and privacy collapsed

  16. Regulating Consumer Genetic Technologies Conclusions: DTC policies are over the place, FDA poised to regulate Big Data, Human Genomics Somatic vs Germline are key distinctions NY Dept Health 3rd Party Certification in Genomics

  17. Scott Schweikart, Council on Ethical and Judicial Affairs, American Medical Association and Legal Editor, AMA Journal of Ethics – Human Gene Editing: An Ethical Analysis and Arguments for Regulatory Guidance National and Global Levels

  18. Catherine M. Sharkey, The Emerging Role of the FDA Genetic predisposition – BRCA I & II approved Testing Pharmaco-genetic Test authorization incorrect interpretation, incorrect action based on results False positive and False negative

  19. Scott Schweikart, AMA Ethical concernsTechnologiesCRISPR-Cas-9 Somatic vs GermlineAMA: Individual liberty (1) Autonomy & Gene Editing (2) Non-maleficence and Beneficence (3) Social Justice Treatment vs Enhancement National Regulations

  20. Patricia J. Zettler, Regulators can do: Promote self regulations vs restrict community labs Drugs: premarket approval by FDA 11/2017: any use of CRISPR is subjected to regulation Bio hacking materials are distributed outside channels

  21. Patricia J. Zettler, FDA agency – regulation can’t reach everything, Not seen wide range abuse, FDA encourage learning and information dissemination and Educate

  22. Maxwell J. Mehlman, Governing Non-Traditional Biology On-Line gene editing equipment CRISPR-Cas9 – IGEM – international Competition in community of Scientists Biological weapons – issues of Prior Art impeding patentability may come up

  23. Maxwell J. Mehlman Harm to subjects Biosafety Safety Phase I Gene drives in Human?? – Human gene editing: “Nanoparticle and liposomal delivery” and “Allelic drive using CRISPR”

  24. ⁩ ⁦ regulatory options: liabilities, legal requirements industry restrictions on access to material community labs, NTB IRBs self-governing bodies FBI surveillance

  25. Barbara J. Evans Is it FDA duty on Cosmetic enhancement Genome is Software, US is not good in regulating software The Harm Principle, Legal Paternalism benevolent vs non-benevolent Legal Moralism – no body is harmed but it’s just wrong

  26. Barbara J. Evans Multiple Agencies: In the 80’s on Future Products of Biotechnology: EPA, FDA, USDA, OSHA, CPSC, NIH, NEPA, ESA, APA Skepticism that compulsory regulation for compliance with norms

  27. Barbara J. Evans Regulatory Challenges Citizen Science and DIY Bio democratization of science and medicine narrative, new frontiers for institutional science narrative nostalgia narrative, political narrative: “hacker” portrayals

  28. in Preparing for Future Products of Biotechnology, NAS

  29. Seema Mohapatra, AAbolishing the Myth of “Anonymous” Gamete Donation in the Age of Direct-to-Consumer Genetic TestingAnonymous sperm donation Sell sperm $30 – $130 per sample – industry is thriving due to donor anonymity last 3 years,

  30. Seema Mohapatra, 2.6 million Ancestry DNA only to keep donor Anonymity Donor-Conceived Individuals at age 18 can identified the DonorLegal landscape ART – no federal laws regarding UT and WA [medical disclosure about the donor

  31. Nita Farahany, Professor Law, Philosophy Duke Law School need new Framework if anonymity is dead, most uses are diverted for medicinePrivacy is improving, ACA – protects from preexisting conditionsIndividual costs vs societal benefits

  32. Liza Vertinsky Courts: Pushing the boundaries: (1) Privacy (2) publicity rights (3) property (commodificationPresidential Figures: Infidelity gene, gambling geneLegal pathways Junk DNA Law enforcement databasesAlternative legal framing

  33. Kayte Spector-Bagdady, Data coming into Academia – Genetic data partnerships Academia (41% NIH funding) and Industry: Use of existing private data, company performs analysisPatients: using data and specimens in ways they do not wish

  34. Kayte Spector-Bagdady, to secondary research: stay anonymousPublic health covers Informed consent forms – conceptualize for secondary research protocols Transparency In BioBank Research 67% commercialization of biospecimens agree

  35. Property and Health Data: Excludability, Alienability and Divisibility, Valuation and compensation, Unstewarded and Orphan data, duration, tracking Propertization of medical information effect on biomedical research

  36. Genetic “Property” Statues: @CO – genetic information pertain to the individual health data – common law Personal Property vs Information as Property object

  37. direct consumer protection may get that by Claim of conversion – Common Law Genetic Testing companies are protected by three legal laws consumers as employees face genetic information been accessed by employers via Wellness Programs

  38. Courts shows a newfound openness to claims for genetic conversion claims will not stifle reaserch or create moral harms consumers genetics, claims for genetic conversion necessary to adequately protect people’s interests in their DNA

  39. ⁩ ⁦ three new regulations of ownership of genetic test information ownership even Dx of breast cancer Insurance may not cover BRCA testing

  40. ⁩ ⁦ employment law and genetic testing property ownership

  41. Family not in treatment relationship with the Researcher – Court rejected the claim family donated to research unfair benefir of the Hospital from the data and tissue donatedClaim of conversion – Common LawGene by Gene Family Tree DNA

  42. Insurance may or may not cover BRCA testing Law suit on that matter is pending

  43. Life insurance company initiated genetic testing: (a) Gatekeeping policy underwriting new comer applicants (b) Wellness Employer wellness programs incentivize healthy behavior Incorporate genetic testing into wellness Programs Testing

  44. wellness Programs Test for preventing genetic conditions Like BRCA, Lynch syndrome, preventable – win/win proposition –>>> Healthier employees. Studies show shift of cost from employer to employee and employer have access to genetic i

 

 

RE-TWEETS

 

  1.   Retweeted

    Max Mehlman thinks “DIYBio” is problematic b/c often team efforts; “biohacking” has negative connotations. Suggests “non-traditional biology.”

  2.   Retweeted

    In reviewing how reviewed various tests, Catherine Sharkey discusses how some were reviewed through De Novo and others through 510(k) pathway and benefits and drawbacks of each.

  3.   Retweeted

    . invokes THE CONE OF SILENCE. NO MORE DATA FROM THIS TALK! Medical/scientific publishing norms are weird.

  4.   Retweeted

    A very full house today (480 people registered!) for the Consuming Genetics conference . opening a day that promises to be fascinating. Kudos also for selecting hot topics and amazing speakers.

  5.   Retweeted

    Talking about her ⁦team’s ⁩ paper ⁦⁩ shows most patients want notification of commercial use of biospecimens, most are uncomfortable about profit from biospecimens, but feel better if reinvested in research.

  6.   Retweeted

    You don’t have to identify as a biohacker to understand their goals, interests, and culture.

  7.   Retweeted

    Blog post about about my upcoming presentation at Petrie-Flom Center’s upcoming Consumer Genetics conference this Friday, May 17.

  8.   Retweeted

    Incredibly difficult topic.

  9.   Retweeted

    I asked Maxwell Mehlman how he envisioned biohackers could form an IRB-style review process. One suggestion was to engage with insitutional IRBs. Raise your hand if you think an establishment IRB would approve enhancement experiments? (I don’t…)

  10.   Retweeted

    Gene editing has become cheaper, easier to do in community labs. Max Mehlman ⁦⁩ compares it to where Steve Jobs and Bill Gates began with the personal computer. But US gov has listed as a “weapon of mass destruction”

  11.   Retweeted

    Thanks to for hosting another great conference!

  12.   Retweeted

    “Diversity” means a LOT of different things–it’s very easy to slip back and forth (problematically) between molecular/genetic diversity and social constructs of race. Just using “diversity” elides and blurs important concepts. – Jonathan Kahn @

  13.   Retweeted

    Audience member during Q&A calls the first group of talks “very very interesting — and terrifying.” That’s what we’re here for, folks. These issues are real and we’re happy you’re here to talk about them with us.

  14.   Retweeted

    Just FYI my research showed you cannot waive statutory nondiscrim rights (under GINA or others) but can waive right to judicial forum to decide if there has been a violation (2009 Pyett v 14 Penn Plaza decision-ie case after GINA-overturned 30 years of precedence)

  15.   Retweeted

    FYI in Perlmutter & Peerenboom, the claim was not ownership in the DNA material. It was in the genetic information contained within it

  16.   Retweeted

    “If I want to edit my genes and make my skin glow green, whose business is that?” Barbara Evans on paternalism issues in our views of regulating DIYbio

  17.   Retweeted

    Takeaways from Regulating : Hazel: existing DTC genetic privacy policies are all over the place Sharkey: in an era of big data, FDA is poised to pose enhanced role as health information regulator Schweikart: in gene editing, somatic ≠ germline editing

  18.   Retweeted

    I have been waiting so long for this and is finally here!

  19.   Retweeted

    Many of the regulatory issues/possibilities raised by DIYbio will presented by (co-authors and ) “What can we do with what we’ve already got?”

  20.   Retweeted

    Moderators summary: In today’s panel we heard: -Property law won’t work -Anonymity is dead -Data is being commercialized and we don’t realize it -May be need for publicity rights for DNA. But there is hope. Good things are being done with this data.

  21.   Retweeted

    Is ⁦⁩ right, asks Vertinsky ⁦⁩,to be worried about “genetic ” publishing of information derived from your genetic information (especially discarded DNA). Or a presidential candidate ? What role for law?

  22.   Retweeted

    Interesting points by : Because many biohacking materials exchanges may not take place in traditional commercial contexts, attempting to regulate the trade of materials could prove difficult for FDA.

  23.   Retweeted

    We have not seen much FDA involvement in “genetic biohacking” says , but that might be a shame.Don’t need “harsh involvement” but “engagement” such as education — e.g., how long you can leave potato salad out at picnic, does not mean enforcement

  24.   Retweeted

    On genetic ownership and federalism. ⁦⁩ discusses the 5 states that have protected genetic property and skeptical about how well thought out the common law property approach has been. ⁩ ⁦

  25.   Retweeted

    “When you’re doing something that’s really high risk and cutting edge, maybe you SHOULD experiment on yourself–maybe that’s the most ethical way.” Barbara Evans talks up self-experimentation (reffing previous Nobels) @

  26.   Retweeted

    I feel simultanously very overwhelmed and very excited

  27.   Retweeted

    “Whatever the boundaries of FDA’s authority are [re: biohacking]…there are important questions about how it should use that authority.” @

  28.   Retweeted

    One person uploading info to a genetic database illuminates hundreds or thousands of other people–those people’s info isn’t “voluntarily” in datasets. Genetic databases familial searches aren’t voluntary. Natalie Ram @

  29.   Retweeted

    DIY gene therapy, CRISPR, etc. – failures likely to cause more harm (inadvertent) than successes. Speaker at analogizes to regulation of drones, beer, computer hacking many stakeholders with competing interests.

  30.   Retweeted

    Excellent talk by showing that in the face of clinicians can be legally damned if they do use revealed info and also damned if they don’t–potentially liable for patient’s misguided medical decisions

  31.   Retweeted

    “We need to rethink our Informed Consent methods for our secondary research protocols” – given all the confusion arising among Patients, their Doctors and the Researchers working with the data specimens about the use of the data, says – at Wasserstein Hall

  32.   Retweeted

    How do we deal with Publicity Rights in DNA? Thought-provoking talk by Professor Vertinsky of The “Genetic Paparazzi” conundrum – at Wasserstein Hall

  33.   Retweeted

    argues against recognizing Property Rights in personal health data: “A vast amount of ‘orphan Biomedical data’ is useless” – doesn’t help advance research in the field Other protections already available and more suitable

  34.   Retweeted

    Leading up to Friday’s Conference on Consuming Genetics () here’s a post about my topic: why law isn’t a good fit for health data.

  35.   Retweeted

    Professor Kif Augustine-Adams of says that individual privacy settings on Consumer Genetics testing have limited power; total anonymity is a myth. It is only a matter of time before the relational nature of DNA makes all connections identifiable. – at Wasserstein Hall

  36.   Retweeted

    “Wellness Programs” by Employers or Insurance underwriters – how should they deal with collecting genetic data? suggests Employers / Insurers only act as mediators between members and DTC genetic testing companies, and only get aggregate, anonymized data – at Harvard Law School

  37.   Retweeted

    Natalie Ram: there’s an idea of voluntariness re: searching & genetic information. THAT’S FICTION. Genetic relatedness is different–it’s sticky! “I could decline my aunt’s FaceBook request…but [she] can still serve as reliable-as-ever genetic informant on me.”

  38.   Retweeted

    A lot of thought-provoking posts this month from leading scholars in law, ethics, genetics. Get immersed in the issues before Friday’s conference!

  39.   Retweeted

    When employer “wellness programs” incentivize employees to use , consider what goes to , what to or , & what does employee have about any of this.

  40.   Retweeted

    Looking forward to joining this awesome line-up of speakers at ‘s conference & talking about ‘s, ‘s & my work. Thx to , & for organizing!

  41.   Retweeted

    It’s not every day that a serious conference on discusses Brad Pitt in a bath leaving behind sperm that later impregnates a woman and the legal challenges that emerge. Well done – you managed to get everyone’s attention 🙂

  42.   Retweeted

    Anguishing story told with elegance and grace. We are all utterly unprepared for generations of secrets unearthed by 26 million ++ kits sold to date.

  43.   Retweeted

    “Civilized societies are nearby, believe it or not!” explains how when is implemented in Canada, it means the government pays for it. (We are all v jealous about your developed country to the north, Vardit)

  44.   Retweeted

    Jonathan Kahn ⁦⁩ ⁦⁩ discusses the fall and rise of race in genetic medicine, its science and politics.

  45.   Retweeted

    Yes! And we should continue to strive to have racial and ethnic representation to ensure that genomic research and policy doesn’t continue to exacerbate racial disparities

  46.   Retweeted

    Fascinating discussions today at the conference

  47.   Retweeted

    Potential consequences are greater when editing germline compared with somatic cells, because its modification can allow for the generational transmission of altered genes. laying out priciplist bioethical concerns of

  48.   Retweeted

    Health information should not be treated as property to protect individuals, says . Instead, we should continue to enhance existing regulatory and liability rules to safeguard individual privacy and data security.

  49.   Retweeted

    There has been a relunctance by courts to recognize information as property, but that could change drastically when it comes to genetic data.

  50.   Retweeted

    Sir Wm. Blackstone is always a hit on the big screen — from my talk today on why health data isn’t property .

  51.   Retweeted

    FDA involvement with DTC tests hasn’t shut them down. Five have been approved, and FDA has been flexible in its approval pathway (4 de novo, 1 510(k)). – Catherine Sharkey @

  52.   Retweeted

    Emily Qian of is a genetic counselor and is co-author on one of the blog posts in our symposium:

  53.   Retweeted

    At the Ethics Conference on Consuming Genomics. There was a question about why patients decline participating in precision medicine research. Check out our paper on why patients decline genomic sequencing

  54.   Retweeted

    Great turnout at DTC genomics conference today. Tour de force discussion of the issues facing the personal genomics industry and consumers today.

  55.   Retweeted

    “Informed consent is a process” that should include: test’s purpose, possible results of the test, test’s limitations/consequences, confidentiality/privacy, risks of testing and familial implications, and voluntary participation.

  56.   Retweeted

    The amazing ⁦⁩ closes out the conference by discussing the ethics of non-invasive prenatal testing (NIPT), it’s ethical challenges, and how whole genome NIPT may make “the fetus transparent.”

  57.   Retweeted

    .: what about DNA vigilantes who upload information to databases explicitly to help law enforcement? Natalie Ram: BAM I ALREADY WROTE THAT ARTICLE CHECK IT OUT. (forthcoming , mayyyybe here? )

  58.   Retweeted

    23andMe does a pretty good job situating and contextualizing results, but APOE testing may have little benefit

  59.   Retweeted

    Is ⁦⁩ ‘s test for APOE associated with Alzheimer’s different ethically speaking from its other tests? ⁦⁩ ⁦⁩ discuss ⁦

  60.   Retweeted

    Ultrasound technology made the uterus transparent, so parents could see their child before it was born. In the future, could make the fetus itself transparent, so parents can see the whole genome. Many associated ethical challenges, both pre- and post-birth

  61.   Retweeted

    Great talk by one of the authors at on the need for laws and regulations to protect the privacy rights of genetic testing consumers and assuage concerns about information

  62.   Retweeted

    Johnathan on The Fall and Rise of Race in Genomics: – not a thing (2000) – a stepping stone to true targeting (2005) – useful to classify subpopulations (2011) – under-representation of ethnically diverse subpopulations are necessary for good data (2019)

  63.   Retweeted

    When tests allow the breach of anonymity and privacy of relatives who don’t want to be known–including in cases of rape–what should we do? Answers aren’t easy. -Kif Augustine-Adams

  64.   Retweeted

    Listening to the brilliant discuss the concept of non-directiveness in genetic counseling.

  65.   Retweeted

    Grateful for the opportunity to participate in the Annual Conference – thanks Carmel Sachar & Cristine Hutchison-Jones for a great line-up & planning- learned a lot & left with many more ?s to consider

  66.   Retweeted

    & : “The more jurisdictions that adopt a cautionary approach to their own regulations for genome editing (particularly heritable genome editing) the more likely negative world-wide consequences can be mitigated.”

  67.   Retweeted

    There’s no prospect of potentially suing because of the disclaimers and forced arbitration put into agreements by the company ⁦

  68.   Retweeted

    explains the ways employer wellness programs is only a “theoretical win-win.” Minimal results come at the cost at privacy, and all of which can also show up in insurace realms as well. (Ex: Life insurers also implementing wellness policies)

  69.   Retweeted

    Although increasing access to predictive/actionable genetic tests could theoretically be beneficial, we should be cautious about using third-parties, like life insurers, to disseminate these tests to their consumers without greater regulatory protections.

  70.   Retweeted

    . has examined for years whether we should own our genetic info. Three reactions: Lay: yeah, duh Lawyers: no, duh (see Moore v Regents of U of Cal) Clinicians/researchers: Good God No! Disaster! (Not live-tweeting b/c draft here: )

  71.   Retweeted

    Property Conversion in Genetic Property Rights – who owns the rights? “Researchers need to be transparent and use adequate informed consent” – claims for generic conversion should not stifle research or create moral harms, suggests – at Wasserstein Hall

  72.   Retweeted

    We’re so proud of our friend and Academic Fellowship alum ! ✨🕺🏻

  73.   Retweeted

    Why is most insurance typically a state issue? FYI – Congress essentially “blessed” and preserved a state regulatory system of the insurance industry with passage of the McCarran-Ferguson Act of 1945. It makes it politically difficult to push this at federal level

  74.   Retweeted

    DTC genetic testing customers lack legal protections. Genetic conversations might offer them some rights… ?

  75.   Retweeted

    . takeaway: Wellness programs aren’t necessarily bad, but question is what data goes to consumers, what data to employers and insurers, and what can they do with it?

  76.   Retweeted

    . takeaway: w/r/t liability, companies are essentially immune because of disclaimers & arbitration clauses; doctors may be on the hook.

  77.   Retweeted

    Q by : What do we tell GCs/trainees when we get a DTC result that needs to be confirmed but insurance won’t pay for confirmation? Answer: not very clear, but might be liable if we do nothing. Yikes!

  78.   Retweeted

    Major disconnect with the ideas of ways to convert health data into what we have traditionally considered property-like rights.

  79.   Retweeted

    Great point from about how to treat “control group” genetic data, from those without the indicative genetic information, in arguments for genetic ownership/remuneration arguments.

  80.   Retweeted

    The story of a mom who contacts her (donor conceived) five-year-old’s grandmother — then gets threatened by a sperm bank

  81.   Retweeted

    The ethical debate about anonymity is MOOT. There is no anonymity for sperm donors, nor are there any federal laws regarding anonymity of sperm donors. (Some states address medical information/disclosure but not anonymity)

  82.   Retweeted

    Three observations: 1. Biomedical data/samples are governed by method of procurement 2. Contributors care about use 3. Specimens/data procured differently end up being used similarly (lots of mixing between academia & industry). ==>TENSION. – @

  83.   Retweeted

    Rights to privacy or publicity – What will the courts decide? Well, it’s unclear because there are gaps in the existing laws. Liza Vertinsky also looking at the underlying implications of the choices of legal pathways

  84.   Retweeted

    . is an active moderator! Asking excellent questions (including mine–how do we react to patients not ‘getting’ consent info?, and then ‘s on right not to be a genetic parent! Need to think on your feet w/ Nita around!)

  85.   Retweeted

  86.   Retweeted

    Wondering how panelists and fellow attendees feel about this lack of anonymity? and individuals conceived from egg or who want to know about their background never consented to anonymity of donors

  87.   Retweeted

    Yeah that looks simple! Barbara Evans on what the regulatory pathway issupposed to look like and what makes it challenging in the world of genetics using charts from 2017 reports. And an ode to the “pink golden retriever” we all want

  88.   Retweeted

    You’re welcome!

  89.   Retweeted

    Barbara Evans: Peer-review is no longer the threshold for good science it once was – grant review is. But if research is not funded…those protections aren’t there

  90.   Retweeted

    How well are companies doing in complying with the privacy principles they themselves signed on to? James Hazel talks about the work he and Chris Slobogin ⁦⁩ ⁦⁩ have done. ⁦

  91.   Retweeted

    Excellent talk by Barbara Evans expressing skepticism about a top down regulatory approach on biohacking (“If I want to turn my skin bright green who’s the FDA to tell me I can’t?), citing Lisa Ikemoto’s excellent DIY Bio Hacking article

  92.   Retweeted

    Terrific representation of women at ! Speakers: 14F, 6M Moderators: 4F, 2M Nicely done, folks.

  93.   Retweeted

    Panel takeaways: * DTC privacy policies are all over the place, and Best practices are a good way forward. * FDA is poised to take an advanced role as a regulator in the field. * We must differentiate between germline and somatic editing for regulation

  94.   Retweeted

    Catherine Sharkey asks us to consider the FDA may play in managing the conceptual risk and regulatory model for DTC genetic testing especially given the complexities that AI, machine learning, and big data add to this industry

  95.   Retweeted

    You can hear a pin drop in the auditorium as Kif Augustine tells a very personal tale about how reveals a story of rape and a lost half sister. Secrets, lies, ancestry, DNA, and Mormon Orthodoxy in 1959 Utah.

  96.   Retweeted

    And what does diversity mean? What does it do? Among other things, drives $$$$ funding in the research cycle.

  97.   Retweeted

    Health equity is due to structural and systemic racism in the field present from its beginnings. Seeking more diversity in the workforce will not solve this “health equity” issue. As Jonathan Khan notes, these d&i initiatives can be used to elide responsibility

  98.   Retweeted

    Natalie Ram at talks about familial investigations for law enforcement. For a short, recent piece w/ & Amy McGuire: . Longer ago and longer (by far) in :

  99.   Retweeted

    Natalie Ram uses her baby bump as the ultimate scholarly “flex” in showing the involuntary and immutable nature of informational revelation for the children we produce. How do these elements make the forensic use of that information different?

  100.   Retweeted

    Ooh interesting! Natalie Ram argues that the involuntariness of familial info getting into databases means the Third Party Doctrine [which sucks anyway] shouldn’t apply. (here’s her piece, DNA by the Entirety: )

  101.   Retweeted

    providing a range of policy/legal choices about how to address new forms of noninvasive prenatal testing

Read Full Post »

Tweets and Retweets by @AVIVA1950 and by @pharma_BI for @USAIC and #USAIC2019 at the 13th Annual BioPharma & Healthcare Summit, Thursday, May 9, 2019, Marriott Hotel, Cambridge, MA

 

  1.  liked Tweets you were included in

    18 hours ago

    4 other likes

  2.  liked your Tweets

    18 hours ago

    10 other likes

 

  1.   Retweeted

    Alise Reicin discusses endpoints needed in and effect of cost of in Panel Discussion morning Networking break

  2.   Retweeted

    Alise Reicin Panel Discussion: best done as Basket&Umbrella trial; response rate 30-50% but Phase3 negative

    Translate Tweet

  3.   Retweeted

    Dr. William Chin design challenges with newer in recruiting patients; use Basket&Umbrella Trial design Live

 Retweeted

On risk | benefit: Long term impacts of treatment may be present for the life of the patient

  1.   Retweeted

    Discussion of cyber security at panel moderated by – realization that everything is interconnected: risks to business-critical functions. Much to learn from FinTech & others’ prior experience.

  2.   Retweeted

    Unexpected best thing about – at least three Zimbabweans in the crowd / on the stage.

  3.   Retweeted

    segueing into a discussion of safety, and risk tolerance. Prevention has a higher safety bar than treatment later in the disease process.

  4.   Retweeted

    Most humbling & touching moment: meeting an exec who nodded & teared up as I told him what we do His 9 yo child needs frequent contrast enhanced MRI scans for a rare disease. We felt like the smallest co at yet so important for hope & health

  5.  
  6.   Retweeted

    Great initiatives to bring CAR-T to India an automation to drug manufacturion

    Amazing moderator asking provoking question of best panel in responses by experts made known were different for competing rivals the aim is same best faster largest at lowest keeping maximized

  7.   Retweeted

    Dr. Bruce Chabner Talk: Old Phase 1,2,3 design not needed for & era based . very accommodating in Phase 1 trial design.

  8.   Retweeted

    Dr. Bruce Chabner panel discussion: selection based on new design paradigm; 40 drugs approved by accelerated approval for

  9.   Retweeted

    Dr. Mace Rothenberg talks for approvals vary greatly over multiple countries makes issues of ong-term design and post approval reimbursement

  10.   Retweeted

    Talk : design now depends on systems e.g. organelle delivery. only wants accelerated approval not conditional approval. Surrogate markers critical for new trial design

  11.   Retweeted

    Dr. Rob Scott Panel Talk crisis in not in . Lowest investment in development. Physicians using SAME design for . use in trails increasing

  12.   Retweeted

    Dr. Rob Scott on design @usaic2019: Regulators as partners not barriers but burden of efficacy on . Can use advertising to increase recruitment as 70% willing participants live too far away so use &

  13.   Retweeted

    Dr. Rob Scott discusses recruitment and burdens : prefers to do in house & not use CRO as CRO less effective in monitoring trial

  14.   Retweeted

    “Some drug platforms are mature enough to fall under the practice of medicine” – Tim Yu of

  15.   Retweeted

    Closing R&D strategies panel at is with NIBR’s Janssen’s and Takeda’s Andy Plump. Moderator Martin Mackay (now of newco Rallybio) asks: What are you most excited about?

  16.   Retweeted

    Talk of indexed pricing model in the US may be a challenge for access to other parts of the world, says a speaker on rare disease panel

  17.   Retweeted

    The biggest problem that we have in the industry is the lack of empathy, says Chris Viehbacher

  18.   Retweeted

    Tim Yu’s example left a room full of seasoned biopharma R&D execs wowed. More background here:

  19.   Retweeted

    (May 9, Boston) will feature plenary panel on Emerging R&D Strategies moderated by Dr. Martin Mackay, Co-Founder, Rallybio, with of , Andy Plump of , of Janssen, Michael Ehler of -> register today

  20.   Retweeted

    Check out my latest article: Where is Oncology Drug Development Heading Next? Hear From Top KOLs at 13th BioPharma Summit May 9, Boston via

  21.   Retweeted

    Check out my latest article: One in a Million: Emerging Trends in Rare Diseases at 13th annual BioPharma Summit- May 9, Boston via

  22.   Retweeted

    Check out my latest article: Chris Viehbacher, Gurnet Point Capital joins the USAIC Advisory Board. Please join Chris & other leaders at our annual BioPharma Summit, May 9, Boston via

  23.   Retweeted

    Check out my latest article: R&D Panel: BioPharma KOLs Debate R&D Strategies & Trends at 13th annual BioPharma Summit, May 9, Boston via

  24.   Retweeted

    Check out my latest article: What Does The Future Hold For Drug Development & Clinical Trials? Hear Predictions From Top Drug Developers at the 13th BioPharma Summit May Boston 9 via

  25.   Retweeted
  26.   Retweeted

    Value and Access – The Ongoing Debate.The BioPharma Summit will feature this special session. Join the discussion with BioPharma KOLs via

  27.   Retweeted

    BioPharma Manufacturing in the Future: Hear KOLs Debate the Challenges and Opportunities at the 13th annual BioPharma Summit, May 9, Boston via

  28.   Retweeted

    Our 13th Biopharma & Healthcare Summit has kicked off with introductory remarks from USAIC President Karun Rishi and emcee Dr. Andrew Plump, President of R&D for Takeda.

  29.   Retweeted

    The session is starting as I attend the focused on US-India bio-pharma healthcare summit. The focus is on and to deliver compelling affordable care with key role for technologies.

  30.   Retweeted

    Carl June believes we’re only a few years away from outpatient CAR therapies, with no need for intensive infrastructure with ICU.

  31.   Retweeted

    Dr. Maus ⁩ monitoring data from clinical trial is very important development of new targets multiple drugs multiple mechanism multiple specificities more modification to one cell contamination results

  32.   Retweeted

    “Cancer is a collection of rare diseases” – , Director of Clinical Research, Cancer

  33.   Retweeted

    Sanat Chattopadhyay of US Merck says costs of manufacturing in US/Europe is significantly higher because technology deployed is ancient, both in small molecules and biologics.

  34.   Retweeted

    Rare disease taking center stage as technologies mature, panel moderated by CRISPR Therapeutics CEO Samarth Kulkarni

  35.   Retweeted
    Replying to  

    Enjoyed moderating the panel on manufacturing in the future as bio pharma companies explore ways to deliver drugs at affordable price and address access challenges. Digital innovation in manufacturing and supply chains will be key.

  36.   Retweeted

    Price is part of doing business…if you are not able to define value, you are sunk, says Chris Viehbacher Gurnet Point Capital

  37.   Retweeted

    All diseases are unique Your perspective changes when you or someone you love is diagnosed with a life-altering disease – rare diseases panel

  38.   Retweeted

    Arun Singhal, addl secretary, health ministry speaks about Ayushman Bharat, trade margin rationalisation, clinical trial rules at meeting

  39.   Retweeted

    Clinical trials in India picking up steadily, says Eswara Reddy, DCGI

  40.   Retweeted

    Regulators will “provide complete support” for clinical trials in India provided drug developers meet the new requirements – Drug Controller General of India Eswara Reddy

  41.   Retweeted

    discusses prevention and treatment of early disease e.g. precancer The challenge is to work out the commercial model says organize around prevention Early diagnosis / discovery of disease processes saves lives (’s raison d’etre)

  42. AMAZING EVENT @AVIVA11950 13th Annual & Healthcare Summit, Thursday, May 9, 2019, Marriott Hotel, Cambridge, MA via

  43. Dr. James Bradner, President, Novartis Institutes for BioMedical Research biophysical biochemical protein degradation – rewire disease cells with biomolecules combing propertitie of permiability of small molecules

  44. World PGD Growth of 4% in India 31%

  45.   Retweeted

    Takeda R&D Head Andy Plump asks question from audience to peers on stage: “I’ve been in the industry for 18 years and I can’t understand why a clinical trial costs so much. Why does it?”

  46.   Retweeted

    Manufacturing in the age of individualized medicine? We may need a completely different thinking for that says Paul Mckenzie, Biogen

  47.   Retweeted

    The so-called low-cost manufacturing edge of India will go away in a few years, says Hari Bhartia, Jubilant…being closer to the customer will be important

  48.   Retweeted

    Tricky question: getting patients to cancer centers to participate in clinical trials. Should patients be reimbursed for long travels and other expenses or will it be seen as an inducement?

  49.   Retweeted

    A chance to collaborate with my old colleague & friend ! -> another point from same panel: AbbVie CMO Rob Scott predicts tele-health solutions for clinical trial patients will be scalable soon

  50.   Retweeted

    Carl June: There are no CAR-T clinical trials in India. But says countries like India could eventually leapfrog to next gen (outpatient) cell therapy which will require less infrastructure + lower COG

  51.   Retweeted

    The 13th Annual BioPharma & Healthcare Summit is being kicked off by Andrew Plump. In his opening remarks, he commented that we should feel privileged as attendees because not even or is invited to this meeting.

  52.   Retweeted

    A well-represented panel of scientists, CEOs and entrepreneurs discuss a range of discovery research from CAR-Ts to small molecules…on the same panel is Arjun Surya of Curadev that licensed a preclinical oncology lead to Takeda.

  53. The promise of India is the largest democracy, the educated workforce the size of the market for therapeutics, access and price, reimbursement and regulation. DCGI the analogue of FDA is very active and innovated the challenge of 1.3 Billion a population of patients

  54. Great Leader in immunotherapy, Carl June early inventor and endless commitment to patient a Pro for BioPharma

  55. GREAT Conference of who is who in BioPharma, Boston at the top 500 startats of Biotech in Cambridge, MA ten years afo only a handful, boost by Novartis HQS in Cambridge, MA

  56. Liked the analogy of

Read Full Post »

LIVE 13th Annual BioPharma and Healthcare Summit, Thursday, May 9, 2019, Marriott Hotel, Cambridge, MA

Reporter: Aviva Lev-Ari, PhD, RN

 

http://www.usaindiachamber.org

8:40 AM – 9:10 AM Registration and Networking
9:10 AM – 9:20 AM Welcome addressKarun Rishi, President, USAIC

Opening comments: Dr Andrew Plump, President R&D and Director, Takeda Pharmaceuticals

9:20 AM – 9:40 AM Fireside Chat

  • Mark Abdoo, Acting Deputy Commissioner, U.S. Food and Drug Administration
  • Dr Eswara Reddy, Drug Controller General of India, Central Drug Control Organization

Moderator: Sanat Chattopadhyay, President, Merck Manufacturing Division; Merck & Co.

9:40 AM – 10:00 AM Presentation on CAR (chimeric antigen receptor) T-cell Therapies
Dr. Carl June, Director of Translational Research, Abramson Cancer Center University of Pennsylvania Moderator: Dr. Raju Kucherlapati, Professor of Genetics, Harvard Medical School
10:00 AM – 10:50 AM Panel Discussion: Oncology – The Emperor of BioPharma Development

Panelists:

Moderator: Dr. Christiana Bardon, Managing Director, MPM Capital

10:50 AM – 11:20 AM Networking Break
11:20 AM – 12:10 PM Panel Discussion: Future of Clinical Trials and Drug Development

Panelists:

Moderator: Dr. William Chin, Professor of Medicine, Emeritus, Harvard Medical School

12:10 PM – 1:00 PM Panel Discussion: Manufacturing in the Future

Panelists:

  • Hari Bhartia, Founder and Co-Chairman, Jubilant Bhartia Group
  • Mark Abdoo, Acting Deputy Commissioner, U.S. Food and Drug Administration
  • Dr. Paul McKenzie, Executive Vice President, Pharma Operations & Technology, Biogen
  • Sanat Chattopadhyay, President, Merck Manufacturing Division; Merck & Co.
  • Vinay Ranade, Chief Executive Officer, Reliance Life Sciences

Moderator: Professor N. Venkat Venkatraman, Boston University Questrom School of Business

1:00 PM – 1:50 PM Lunch
1:50 PM – 1:55 PM Video message from Suresh Prabhu, Hon’ble Minister of Commerce & Industry, Gov. of India
1:55 PM – 2:45 PM Panel Discussion: One in a million – Emerging trends in Rare Diseases

Panelists:

Moderator: Dr. Samarth Kulkarni, Chief Executive Officer, CRISPR Therapeutics

2:45 PM – 3:20 PM Networking & Tea Break
3:20 PM – 3:50 PM Fireside Chat: Value and Access – The ongoing debate

Moderator: Dr Andrew Plump, President R&D, Takeda Pharmaceuticals

3:50 PM – 4:10 PM India update on Clinical Trial Regulations

  • Arun Singhal, Additional Secretary, Ministry of Health & Family Welfare, India
  • Dr Eswara Reddy, Drug Controller General of India, Central Drug Control Organization
4:10 PM – 5:00 PM Panel Discussion: Research and Development Strategies and Trends

Panelists:

Moderator: Dr. Martin Mackay, Co-Founde, Rallybio

5:00 PM – 5:05 PM Closing Remarks
5:05 PM – 6:15 PM Cocktails & Networking Reception

Aviva Lev-Ari, PhD, RN & Leaders in Pharmaceutical Business Intelligence (LPBI) Group

will cover the event in Real Time

REAL TIME COVERAGE USING SOCIAL MEDIA

 

LIVE Images taken by @AVIVA1950

 

 

 

9:10 AM – 9:20 AM

Welcome addressKarun Rishi, President, USAIC

Opening comments: Dr Andrew Plump, President R&D and Director, Takeda Pharmaceuticals

  • tomorrow announcement @Shire
  • India 1.3Billion in India, each person is a potential patient in the largest democracy in the World
  • China – transformation takes place every day
  • The Patient and the Pricing of Drugs the biggest issue missing the ball dialoguing on Panel today

9:20 AM – 9:40 AM

Fireside Chat

  • Mark Abdoo, Acting Deputy Commissioner, U.S. Food and Drug Administration (FDA)
  • Dr Eswara Reddy, Drug Controller General of India (DCGI), Central Drug Control Organization

Moderator: Sanat Chattopadhyay, President, Merck Manufacturing Division; Merck & Co.

9:40 AM – 10:00 AM Presentation on CAR (chimeric antigen receptor) T-cell Therapies
Dr. Carl June, Director of Translational Research, Abramson Cancer Center University of Pennsylvania Moderator: Dr. Raju Kucherlapati, Professor of Genetics, Harvard Medical School

  • Video on child with recurrent twice of leukhimia
  • T-cell HIV Virus infect

 

10:00 AM – 10:50 AM

Panel Discussion: Oncology – The Emperor of BioPharma Development

Panelists:

  1. solid vs blood tumors
  2. T-Cells amplification microenvironment and biology
  3. PD-1 in combination therapies thousand Trials
  4. Biomarker allows to check response in conjunction with genomics data brings insights
  5. Tumors World, Biomarkers in Immuno oncology respond to PD-1 no response to other drug
  6. stratify patients
  1. Protein experimental data compound design from simulations of VIRTUAL compounds,
  2. how to incentivise to take on new innovations
  1. more that one single administration by injection
  2. response rates different even in one patient let alone among patients
  3. detection gene
  4. CAR-T glioblastoma
  5. pancreatic cancer good responses in combination therapies
  6. immunr repertoire biology so complex that biomarkers are limited

Moderator: Dr. Christiana Bardon, Managing Director, MPM Capital

  • 30% patinets with complete cure

10:50 AM – 11:20 AM Networking Break11:20 AM – 12:10 PM

Panel Discussion: Future of Clinical Trials and Drug Development

Panelists:

  1. endpoints need to be redefined it effect price of drug development
  2. in Oncology – Basket and Umbrellas Trial – two stufies approval for melanoma, biomarker
  3. Is response rate is 30% va 50% and Phase 3 is negative Kertuda when worked at Merck dose ranging last phase when response dropped from 60% to 30% in the case of Study C3
  4. 30% of the cost of the study – 30% was translational
  5. CRO model appropriate oversite vs douplication of tasks
  • Dr. Bruce Chabner, Director of Clinical Research, Mass General Hospital Cancer Center
  1. Old paradigm Phase 1,2,3 – off the board now, New drugs do not need the old paradigm
  2. Phase i1 changed if genomics is involved multiple cohorts at same time
  3. FDA play amazing role
  4. patient selection is key
  5. mutations in rare disease vs mutations in cancer
  6. immunotherapy and endogenic drugs with chemo in RENAL cancer
  7. check-points – lung cancer understood money spent to find responders
  8. HOW to select which cheno therapy — no improvement today vs past
  9. 40 drugs approved by accelerated approval one came back on the market
  10. Financial burden of being in a clinical trial
  11. Foundation gives money to Institutions to reimburse patients for flights, meals, acommodation, Pharma are reluctant to participants due to potential accusation of bias id Pharma pays Patients that participate in Clinical Trials
  1. FDA recognizes approval process – systems involved AFTER approval for reimbursement and monitoring after market
  2. regulatory by countires are different
  3. which factors are sacrifiable in the long tern in clinical trial design
  1. Safety – benefit risk is what physicians work with every day
  2. Drugs paradign of small molecules does not hold is you have a drug that deliver entire organelle – how you dose for half life how you prive the rate of replication in the body
  3. Surrogate markers
  4. Taking a drug off the market ->>  conditional approvals [approval can be taken back or require additional studies] not a favorable view of Pharma in the present to support Conditional approval vs accelerated approval

 

  1. speed
  2. differentiation from competition
  3. drug development in crisis is CVD not cancer, US and the rest of the world – lowest investment in drugs is CVD
  4. Studies designed by Physicians using SAME design
  5. need to create experts to use ML in the course of clinical trial design
  6. regulators as Partners not as Barriers
  7. Proof of efficacy is a burden on the developers of the drug not on the Regulatory
  8. Increase use of advertising to recruit
  9. 70% OF PATIENTS WILLING TO PARTICIPATE  lives to far from site of trials
  10. Telecommunication between administrators of study ans clinical Trials participants
  11. Back when I was at Pfizer, designing study – patients burden relieved more willingness to participate
  12. Preferrs to run studies in house vs use CRO they are not effective in monitoring like study run in house

Moderator: Dr. William Chin, Professor of Medicine, Emeritus, Harvard Medical School

  • Probability of success to clinic has not changed
  • challenge is design and execution in clinical trials
  • changes in drug modalities: RNA, DNA,
  • which combination to use
  • how to find the many patients needed
  • Basket and Umbrellas Trial

12:10 PM – 1:00 PM

Panel Discussion: Manufacturing in the Future

Panelists:

  • Hari Bhartia, Founder and Co-Chairman, Jubilant Bhartia Group
  1. supply change
  2. blockchain
  3. quality by design
  4. CPK
  5. productivity will go up variability will decrease
  6. manufacturng must happen in India
  7. Genetics price selection
  8. Secure system, data quality the data logic and the analytics
  9. infrastructure in manufacturing is not completed yet
  10. Training by augmented reality Turnover high in India
  11. cyber security – digitization and central control
  12. demonstration data offense
  • Mark Abdoo, Acting Deputy Commissioner, U.S. Food and Drug Administration
  1. next 10 years India and China will improve regulatory activities and match better the US requirements
  2. review foreign hosts
  3. skills and location of hosts:
  4. India: Standards and unannounced inspections and
  5. China: same
  6. Blockchain is experienced as experimentation at FDA across each all parts of the Agency
  • Dr. Paul McKenzie, Executive Vice President, Pharma Operations & Technology, Biogen
  1. raw material to patients: Pharma very slow than other industries Reliable needs be very high, relationships
  2. Hurrican in PortoRIco affected supply chain
  3. Reality, every one HAVE to be in China
  4. Platforming for each modality for Scaling out vs Scaling up
  5. diversify vs modality x
  6. build capacity and capabilities customization of ultra filtration different in two plants lowers standardizations
  7. Training on Demand, Virtually, documnetation needs to change to electronic
  8. Continueous manufacturing Academic contribution
  • Vinay Ranade, Chief Executive Officer, Reliance Life Sciences
  1. Pharma was slow in India the manufacturing
  2. infantile diarreha vaccine 70,000 in 4 years needs that drug,
  3. massive intellectual capital in India
  4. How to implement and make best use of data to improve processes
  5. cyber security was not experiences
  1. Phase 1 scaling out vs up – it is different in vaccine field
  2. ML, Block chain, supply chain and manufacturing will be adapted in supply chain
  3. Apply analytics and relationships in manufacturing
  4. obsolescence and upgrades
  5. capture data electronically
  6. cyber security can be a hazard hard to mitigate when all systems are down
  7. significant challenges in manufacturing and data security

Moderator: Professor N. Venkat Venkatraman, Boston University Questrom School of Business

  • How can Pharma become leaner
  • heterogenuious environment for production
  • cyber security

1:00 PM – 1:50 PMLunch1:50 PM – 1:55 PM Video message from Suresh Prabhu, Hon’ble Minister of Commerce & Industry, Gov. of India1:55 PM – 2:45 PM

Panel Discussion: One in a million – Emerging trends in Rare Diseases

Panelists:

  1. worked with Academic community on how to treat rare disease in the future
  1. Show clinical benefit and impact multiplemyeloma
  2. patients becoming activists
  3. access
  4. foundation by patients
  5. Patient to get cloud
  • Dr. Dhaval Patel, Executive Vice President  and Chief Scientific Officer, UCB
  1. if a modality will cure a disease justify innovation Model for payment: Mortgage Model
  2. Access INDEX pricing – US will benchmark the price in other parts of the world
  3. Gene therapy is not only got monognenic diseases but for
  4. decrease work involved in development of drugs
  • Dr. James Wilson, Director – Gene Therapy Program, University of Pennsylvania
  1. tension between physicians and development of the perfect drug.
  2. AV
  3. Protein replacement therapy repeated infusion gene therapy infrastructure develop in China for China, Develop in India for India vs develop in US for India or China
  4. Cost of manufacturing to decrease
  • Dr. Timothy Yu, Assistant Professor in Pediatrics, Harvard Medical School
  1. Scalability beyond the one case: the mechanism for the drug has generability for other aptients iwth same mutation the method has no limit
  2. Molecular type of mutation Spice Switching strategy, just-in-time manufacturing

Moderator: Dr. Samarth Kulkarni, Chief Executive Officer, CRISPR Therapeutics

  1. Rare diseases, potential for cure
  2. Academia, Hospitals, biotech
  3. commercial model of the disease

2:45 PM – 3:20 PMNetworking & Tea Break3:20 PM – 3:50 PM

Fireside Chat: Value and Access – The ongoing debate

  1. since 2003 testify in the House, against Canadian  David Brenner was asked about importation from Canada of breast cancer tamoxiphen at a lower price than in the US.
  2. From importation crisis to Obama Care – stable system Medicare Part D – drug coverage for Olderly
  3. After Obama – Price is part of doing business REBATES $100Billion the valur of REBATES
  4. Co-Insurance
  1. right for innovation will be preserved
  2. price increase
  3. give and take
  4. Co-pay – We need lower co-pay
  5. with current administration, sink finding the Well instead of Well funding the sick
  6. CHange is coming, co-pay will change
  1. Genzyme days vs 2019
  2. changes how drugs are priced?
  3. Flaws of the system:Gevernment induce prices that will change
  4. $800,000 drug is now $80 [ala Regeneron] – R&D was $2Billion
  5. CO-pay for hospital stay is lower than co-pay on drugs – 10% twice a year

Moderator: Dr Andrew Plump, President R&D, Takeda Pharmaceuticals

3:50 PM – 4:10 PM

India update on Clinical Trial Regulations

  • Arun Singhal, Additional Secretary, Ministry of Health & Family Welfare, India
  1. Each patient deserve access to healthcare in India
  2. experimenting
  • Dr Eswara Reddy, Drug Controller General of India, Central Drug Control Organization
  1. Time line for Application approval for drugs, if approved in another country 60 days
  2. Gov’t hospitals can import New drugs which have not been permitted in India

4:10 PM – 5:00 PM

Panel Discussion: Research and Development Strategies and Trends

Panelists:

  1. Neuroscience – Pharma understand biomarkers and now genetics
  2. Vaccines – across species in the animal WORLD
  1. Attempt not to tweak the PIPELINE: CVD, NEUROSCIENCE AND CANCER
  2. 485 Teams doing R&D convluence of interests to develop cure
  3. Modularity – BioMolecule — multimodality biophysical biochemical protein degradation – rewire disease cells with biomolecules combing propertitie of permiability of small molecules
  4. PHARMACOLOGICAL PREVENTION – biotech is inspiring only Pharma can solve
  1. immunooncology – mutation signature – marker protein signature — that group of diseases respond to
  2. colon cancer and multiple myeloma — understanding of the biology was deep

Moderator: Dr. Martin Mackay, Co-Founder, Rallybio

5:00 PM – 5:05 PM Closing Remarks

5:05 PM – 6:15 PM Cocktails & Networking Reception

Read Full Post »

Tweets by @pharma_BI and @AVIVA1950 at #GenMed2019 on Translating Genetics into Medicine, April 25, 2019, 8:30 AM – 6:00 PM, The New York Academy of Sciences, 7 World Trade Center, 250 Greenwich St Fl 40, New York

  1. ⁩ CC-220 binds to proteins degraded exposure correlates with B cell depletion normal T cells SLE IS THE NEW INDICATION of a repurpose of thalidomide and another drug for melanoma GENETIC DOSE-response portal: genetics, interrogation pleiotropy data analysis visual

  2. Dr. Pledge ⁦ human genetics and drug discovery drug R&D attrition drug value to patient in decline failure in Phase 2&3 lack of efficacy cause hi drug price human as the model organism longitudinal test therapeutics on human phyno

  3. from genetics to target selection finding genetic evidence new opportunities cross-biobank research other RWD genetic data enabler: biobanks FINGEN (Finland collaboration) 23andme GWAS case control prevention disease trajectories

  4. Dr. Rader UPenn Gain of function mutation increase HDL-C therapeutic relevance LCAT Fig below is on TRL

  5. Dr. Rader UPenn Abeta- lipoproteinemia reduce LDL in serum-secretion increase lipid in liver Lomitspide Mipomersen rare Mendelian disorders yielded targets common diseases triglyceride-rich Lipoff protein TG LIPASE critical regulator of ApoC-III ANGPTL3 ANGPTL4 human knockouts

  6. CRISPR tool to perturb enhancers REGULATORY elements by oligo pool pool of gRNA ScanDel pooled deletion screen HPRT1 Utica acid metabolism &CNS function scan deletions across the HPRT1 locus long deletion between two CRISPR cuts one deletion

  7. Dr. Gupta ⁦⁩ ⁦⁩ 6p24 SNP coronary disease Justine acetylation vascular tissue variant in stem-cells differentiation into vascular endothelial cells or vascular muscle cells CRISPR/Cas9 heterozygous deletion

    Translate Tweet

  8. In autism genes identified interplay of congenital heart disease babies to develop therapeutics for autism genetics but Genomics not applicable for an anatomical dysfunction

  9. chromatin modifiers in De novo mutation related to CVD

  10. APA – aldesteron somatic mutations in K+ channel KCNJ5 – instead of only K it conducts K+ and NC- that mutant activation

  11. Adrenal gland behave like tumor antibiotics as therapeutic to rare mutation K NaCl in Kidney

  12. Undiagnozed Dx – rare mutation on gene NLRC4 a core inflasome protein IL-1beta and IL-18 New autoinflammatory Dx to de novo mutation Total novel disease genes HTN renal salt reabsorption and K+ secretions – mutations phosphorelated KLHL3-s433

  13. @AVIVA2950 Common variants small effect on polygenic risk score purifying selection heterozygous mutation dominant lethals caused by mutations Sequence outside coding regions utility coding than non-coding variants SEQ EXOME 20,000 genes 1% genome SLC26A3

  14. Prof. Lifting, Rockefeller University alleles genotype and phenotype links HTN cause death single mutation how kidney handle salt: extreme BP modulate loci to normalize BP Strategy to lower salt to control BP FDA identify genes vs biological

  15. Immune Infiltration Hashimoto Crohn’s RNA-Seq 73 infiltration phenotypes amount of cell types tissue-specific genetics CUX1 gene expression neutrophils in Lungs

  16. Immune-diseases GWAS Variants Treg role in homeostasis on immune system affect 10% of European Population RA, biological vs small molecules risk allele gene expression

  17. Population with high risks for BRCA1 or 2 1 in 30 Rick in African American carriers BRCA1or2 60% no cancer occurs ⁦

  18. Allele-specific reporter assays C G luciferase Multiple regulatory risk allele CRISPR/Cas9 genome editing allele vs Epigene Editing point mutation synthetic transcription factor covalent histone enhancer activation via dCas9-P300 10-6 kB away

  19. Hyperglycemia during pregnancy adverse pregnancies outcome genetic variation on Chromosome 10 1st intron of HKDC1 epigenetic signals of gene regulation

  20. GWAS vs gene regulation non coding regions variant perturbed gene expression target gene identification difficult <50 % enhancers target their nearest gene linkage disequilibrium sensitivity of system perturbation of gene casual gene function Epi

  21. Full picture , longitudinal vs cross section interventions, genetics to predict obesity by Test vs Disease susceptibility of newborn babies top 5% vs 20% for clinical sensitivity specificity 0.8 history BETTER predictor S/S 0.5

  22. today is DNA Day, Humsn Grnome completed, both 4/25 link between and Genomics in way Broder a scope

Read Full Post »

LIVE – Translating Genetics into Medicine, April 25, 2019, 8:30 AM – 6:00 PM, The New York Academy of Sciences, 7 World Trade Center, 250 Greenwich St Fl 40, New York

Real Time Press Coverage: Aviva Lev-Ari, PhD, RN

Aviva Lev-Ari, PhD, RN

Director & Founder

https://lnkd.in/eEyn69r

Leaders in Pharmaceutical Business Intelligence (LPBI) Group, Boston

Editor-in-Chief

http://pharmaceuticalintelligence.com 

e-Mail: avivalev-ari@alum.berkeley.edu

(M) 617-775-0451

https://cal.berkeley.edu/AvivaLev-Ari,PhD,RN

SkypeID: HarpPlayer83          LinkedIn Profile        Twitter Profile

 

Translating Genetics into Medicine

Thursday, April 25, 2019, 8:30 AM – 6:00 PM

The New York Academy of Sciences, 7 World Trade Center, 250 Greenwich St Fl 40, New York

 

Presented By

The Biochemical Pharmacology Discussion Group



The first genome-wide association studies (GWASs) began unraveling the genetic basis of complex diseases over a decade ago. In that time, the development of innovative analytical and experimental methods enabled genomic data to inform how genetics relates to human traits, health, and disease. Nevertheless, progress has stalled in translating genetic association signals to an understanding of their underlying biological mechanisms, in identifying causal links between genetic variants and phenotypes, and in developing therapies based on this knowledge — few drug targets identified through GWASs have advanced.

This symposium will highlight emerging strategies to experimentally and computationally identify and validate causal association from patient cohorts, and outline the challenges and opportunities in translating GWAS hits into successful drug discovery programs.

Key Speakers
  • Richard P. Lifton, MD, PhD

The Rockefeller University

  • Robert Plenge, MD, PhD
Celgene
SOURCE

Translating Genetics into Medicine

Thursday, April 25, 2019

Keynote Speakers
Richard P. Lifton, MD, PhD
The Rockefeller University
“From Genes and Genomes to Targets and Therapies”Robert Plenge, MD, PhD
Celgene
“Making Medicines in the Future: Humans as a Model Organism”
REGISTER
This symposium will highlight emerging strategies to experimentally and computationally identify and validate genetic associations, explore the biological mechanisms of genetic variants and their link to phenotypes, and outline the challenges and opportunities in translating genome-wide association study (GWAS) hits into successful drug discovery programs.
For the full list of speakers and meeting agenda, please visit nyas.org/genmed2019
REGISTER TODAY

Program Support

Biochemical Pharmacology Lead Supporters
Pfizer logo
Regeneron logo
Biochemical Pharmacology Supporter
Boehringer Ingelheim logo
Biochemical Pharmacology Member
https://mailchi.mp/nyas/genmed_2019_04_04?e=2d875d53e9

Agenda

https://event.crowdcompass.com/genmed2019/activities

#GenMed2019

Thu, April 25th, 8:30 AM – 9:00 AM

Continental Breakfast and Registration

Translating Genetics into Medicine

 

Thu, April 25th, 9:00 AM – 9:15 AM

Introduction and Welcome Remarks

Translating Genetics into Medicine

 

Thu, April 25th, 9:15 AM – 9:45 AM

Precision Medicine in Obesity — The Value of Genetic Information

Session 1: Linking Disease to Genetic Variation

Translating Genetics into Medicine

Description

With a growing understanding of the genetic basis of diseases, the expectation is that genetics will soon revolutionize health care. Knowing a patient’s genome would enable us to predict risk of future disease more accurately and to prescribe personalized treatment strategies, as opposed to the traditional “one-size-fits-all” approach.Online genomic companies offer genetic testing directly-to-consumers (DTC), many of which focus on diet, nutrition, physical performance, and fitness. They claim that, based on their customer’s genotype data, they can they can design “genetically matched-diets” to help them lose weight more easily, determine what nutrients their body favors during exercise, what type of training is most effective, among others. Besides personalizing recommendations to live healthier lives, genetics is also being used to predict future risk of disease, such as obesity, using polygenic risk scores (PRSs). PRSs assess an individual’s overall genetic risk based on the cumulative effect of many common genetic variants. Some claim that a PRS can identify people-at-risk early in life, allowing prevention to start at a young age.I will discuss the scientific evidence currently available that supports (or not) personalizing lifestyle recommendations and predicting obesity based on genetic information. I will also briefly review the potential implications of inaccurate “genotype-driven” recommendations. For now, it seems that genotype-based recommendations are likely as effective as the “one-size-fits-all” recommendations and that current PRS prediction of obesity is outperformed by family history.

Speakers

  • Ruth Loos, PhD

    Icahn School of Medicine at Mount Sinai

    Presenter

  • mutations LEP Leptin agonist for Leptin deficiency Mutations on POMC, LEPReceptor MC4R agonists
  • Common obesity vs LEP deficiency,
  • Genetics in early age
  • Health weight Screening on exosome, genome transcriptome,
  • treatment based on genetic profile c
  •  – response vs Direct-to-consumer: bold adviceompanies use data from 23 and me and offer protpcols for health weight
  • Saturated Fat diet  – Framingham Offspring = show predicted data
  • longitudinal group not affected by high saturated died
  • no actual dat ahigh fat dairy high interactionAPOA2, APOA2CC
  • avoid fast food limiting meat
  • Score did not capture extreme obese, score is not predictive
  • 10% on top risk not predicts
  • Will knowing GENETIC Profile change behaviour??
  • Survey 23 diseases – 3600 participants
  • Odesity life risk and genetics — all other factors are critical
  • MCAR – Appetite suppression in the brain — suppresses appetite, satiety
  • Risk Score is like a flip coin

 

 

Thu, April 25th, 9:45 AM – 10:15 AM

Title to be announced

Session 1: Linking Disease to Genetic Variation

Translating Genetics into Medicine

Speakers

  • Christopher Brown, PhD

    University of Pennsylvania

  • GTEx: Geno Type DeneExpression
  • every gene has genetics variations in expression regulatory
  • Any random SNP is an eQTL – most of these tags
  • Concept of co-localization: Chromosome position phenotyoe 1 & 2 No association to Association
  • GTEx explains 52% of GWAS hits Nearest gene, Not nearest Gene No co-localization
  • Disease genes enriched for tissue specific eQTLs: Tissue specific eGene vs Tissue shared eGene
  • Epigenomic fine-mapping: GWAS locus
  • Study design: BioBank Liver biopsies for bio-genomics profiling
  • MOST EXPRESSED GENES INTERACT WITH DISTAL OVER DISTANCE THAN PREDICTED BY NEAREST
  • tissue specific of cis-eQTLs: Liver specific vs shared: associated with enhancer overlap
  • hQTL discovery – are enriched for liver LT alpha
  • identify co-regulated histone marks and genes’ An Example: Chromosome 18 position common loci
  • new Biology; KPLB1 – FADS1/2/3
  • FTO: Chromosome 16
  • Novel candidate have distinct properties: proxemity searches not significant vs research #Brown Lab, Penn, GTEx,
  • Transcriptomes of 5000 liver biopsy tissues
  • DIseased Liver tissue

 

Presenter

 

Thu, April 25th, 10:15 AM – 10:45 AM

Identifying Gene Regulatory Mechanisms of Disease

Session 1: Linking Disease to Genetic Variation

Translating Genetics into Medicine

Description

Genetic variation that alters gene regulation contributes to many and diverse human diseases. In particular, there is strong evidence that nearly all common human traits and diseases are influenced to some degree by non-coding genetic variation that acts via changes in gene regulation. Even for rare diseases, there is evidence that regulatory variation can influence the severity of diseases. Nonetheless, there persist major technological challenges in our ability to empirically or computationally identify specific regulatory mechanisms contributing to those diseases. Overcoming those obstacles will greatly benefit human health by revealing new opportunities for disease diagnosis and treatment.I will discuss recent progress in this area, focusing predominantly on the development and use of new high-throughput genome-scale technologies to quantify the effects of non-coding genetic variation on human gene regulatory element activity and the regulation of downstream target genes. I will also discuss recent progress and specific case studies that highlight the use of those techniques to map causal regulatory mechanisms of various human traits and diseases. Finally, I will discuss future directions in those techniques, with an eye towards making the identification of non-coding mechanism of human disease routine.

Speakers

  • Timothy E. Reddy, PhD

    Duke University

    Presenter

  • Genotype and phynotype
  • enhancers dCas9-P300 reveals HKDC1 is the target gene – is a 5th human kinases
  • gRNA hexokinases: HK1,HK2, HK3 – gloucose in Blood,
  • HK4 (Glucokinase – diabetesis
  • Mice in pregnancy – heperglycemia
  • New hypothesis  –  hyperglycemia during pregnancy:3q25 adipose
  • STARR-seq reporter assays: GFP
  • MASSIVELY PARALLEL REPORTER ASSAY FROM PATIENT’S DNA – PCR-BASED
  • CHROMOSOME 3 POSITION: TRANSVERSION POP-STARR
  • rere alleles have greater and typically deleterious effects
  • Scaling up POP-STARR to entire GWAS loci
  • HepG2 cells: Coverage of target regionsL DIfferences in regulatory activity in pregnancy hyper glacenia
  • epigenome editing screens on HER2
  • CRISPR mapped to target genes: HKDC1 – gene not looked at before
  • expance and scale opportunity exists
  • Cell Type Model

 

10:45 – 11:15 – Coffee Break

 

Thu, April 25th, 11:15 AM – 11:20 AM

Genomic Screening and Personalized Medicine in a Highly Diverse Biobank in New York City

Session 2: Data Blitz Presentations

Translating Genetics into Medicine

Speakers

  • Noura Abul-Husn, MD, PhD

    Icahn School of Medicine at Mount Sinai

    Presenter

  • phenotypic complexity + de novo loss of function mutations
  • Chromatin remodeler mutation can lead to prevention of surgery is treated
  • Neuronal migration defect
  • cutaneous disorder caused by somatic mutationsMutations in KRAS, Ichthyosis with confetti
  • Deviations from Mendelian models: Variable expressivity, Incomplete penetrance
  • CVD: loss of function mutation FLT4 – Tetralogy of Fallot heterozygous mutation
  • Pulmonary fibrosis – short telemere – inhalation if MUTATION + Environment – disease will occur
  • Congenital Heart Disease + Autism – gene loss function mutation vs de Novo mutation
  • Non-syndromic midline craniosynostosis – SMAD6 mutations: common variant near BMP2 and SMAD6 for OSTEOBLAST differentiation – to cause Non-syndromic midline cranio-synostosis
  • Coming revolution in therapeutics: Rare diseasese and common diseases

20,000 genes – known and studies are 5,000

Thu, April 25th, 11:20 AM – 11:25 AM

Immune Disease Variants Modulate Gene expression in CD4+ Regulatory T Cells and Inform New Drug Targets

Session 2: Data Blitz Presentations

Translating Genetics into Medicine

Speakers

  • Dafni Glinos, PhD

    New York Genome Center

    Presenter

Thu, April 25th, 11:25 AM – 11:30 AM

Age, Sex, and Genetic Polymorphisms Influence the Inherent Patterns of Infiltrating Immune Cells

Session 2: Data Blitz Presentations

Translating Genetics into Medicine

Speakers

  • Andrew Marderstein

    Weill Cornell Medicine

    Presenter

Thu, April 25th, 11:30 AM – 12:15 PM

Keynote Address ~ From Genes and Genomes to Targets and Therapies

Session 3: Keynote Address

Translating Genetics into Medicine

Speakers

  • Richard P. Lifton, MD, PhD

    The Rockefeller University

    Presenter

Thu, April 25th, 12:15 PM – 1:15 PM

Networking Lunch and Poster Session

Translating Genetics into Medicine

 

Thu, April 25th, 1:15 PM – 1:45 PM

Human Genetics to Identify Vascular Causes of Coronary Artery Disease and Myocardial Infarction: From Discovery to Function

Session 4: Characterizing Functional Relevance of Genetic Variants

Translating Genetics into Medicine

 

Description

Coronary artery disease and myocardial infarction remain the leading causes of death in the United States and throughout the world. New treatments will require a better understanding of the casual pathways in the cells of the blood vessel wall, where the atherosclerotic plaque is formed. The genetic loci identified through genome-wide association studies (GWAS) represent new therapeutic targets, but only a small number have been functionally characterized. The majority of these risk loci are not associated with plasma lipid levels, suggesting they can identify novel vascular mechanisms of disease.We have prioritized the functional analysis of GWAS loci associated with multiple vascular diseases. One such locus is the 6p24 region, which is associated with five vascular diseases including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia and hypertension. Through genetic fine mapping, we prioritized rs9349379, a common SNP in the third intron of the PHACTR1 gene, as the putative causal variant. Epigenomic data from human tissue revealed an enhancer signature at rs9349379 exclusively in aorta, suggesting a regulatory function for this SNP in the vasculature. CRISPR-edited stem cell-derived endothelial cells demonstrate rs9349379 regulates expression of endothelin 1 (EDN1), a gene located 600 kb upstream of the associated SNP. The known physiologic effects of EDN1 on the vasculature may explain the pattern of risk for the five associated diseases. Overall, these data illustrate the integration of genetic, phenotypic, and epigenetic analysis to identify the biologic mechanism by which a common, non-coding variant can distally regulate a gene and contribute to the pathogenesis of multiple vascular diseases.

Speakers

  • Rajat Gupta, MD

    Broad Institute, Massachusetts General Hospital, and Harvard Medical School

    Presenter

  • Lipid-related therapies vs Non-lipid Therapeutics
  • successful clinical Trials;
  • IL- 3B Inhibitor by Novatris
  • Endothelin-1 is a vasoconsrtictive peptide secteated by endothelial cells
  • Higher ET-1 secretion Genome editing 1bp change at SNP was technically difficult
  • 2-step Cas9 editing at rs9349379
  • EDN1 vs 6p24 locus, downstream doe ET1
  • higher circulating endothelin-1 in participants with risk genotype
  • Vascular biology ET-1 protein,
  • ET-A – brain
  • ET-B – kidney
  • EDNRA – ET-1 Increase CAD/MI decrease HTN – veaodiletion
  • distal genes
  • human genetcs variants with pleiotropic effects that the on-target effects predict consequences of other disease

Thu, April 25th, 1:45 PM – 2:15 PM

New Tools for High-throughput Functional Characterization of the Human Noncoding Genome

Session 4: Characterizing Functional Relevance of Genetic Variants

Translating Genetics into Medicine

Description

CRISPR/Cas9 has driven forward the validation of candidate regulatory elements by enabling high-throughput endogenous perturbation of the human noncoding genome. These advances have been enabled by Cas9’s suitability for use in pooled approaches to perturb and phenotype thousands of candidate regulatory elements in a single experiment. In my talk, I will cover two advances for pooled CRISPR/Cas9 screens of the noncoding genome. First, I’ll describe a method we devised to scan thousands of kilobase-sized deletions (“ScanDel”) across a desired region, programming one unique deletion per cell in a pool and phenotyping them in multiplex by pooled functional selection. In our proof-of-concept study, we used ScanDel to program 4,342 overlapping 1-and 2- kilobase (Kb) deletions that covered 206 Kb centered on HPRT1, the gene underlying Lesch-Nyhan syndrome. However, ScanDel and its contemporaries are limited to evaluating regulatory elements for their effect upon a single gene. To overcome this, we designed and implemented a second method in which large numbers of CRISPR perturbations are introduced to each cell, followed by single-cell RNA-seq to read out their effect upon any transcript. We designed CRISPR perturbations to 5,920 candidate regulatory elements in the K562 cell line, and tested for differential expression of all expressed genes within 1 megabase of each candidate enhancer. We thus effectively evaluated >70,000 potential enhancer-target gene relationships in one experiment, and associated 664 enhancer-gene pairs. Pooled perturbation methods of this scale are poised to facilitate the comprehensive elucidation of the gene-regulatory landscape of the human genome.Coauthors: Andrew J. Hill, Greg Findlay, José L. McFaline-Figueroa, Melissa D. Zhang, Anh Leith, Cole Trapnell, and Jay Shendure, University of Washingon; Nadav Ahituv, University of California San Francisco.

Speakers

  • Molly Gasperini

    University of Washington

    Presenter

  • study single gene at a timemonogenic screens can only
  • location of enhancers eQTL mapping is a masssive parallel methods to test all variants –
  • GWAS “synthetic variation” insert randomly CRISPR candidate enhancer vs target gene
  • CRISPRi – for Epigenetics monoclonal lines
  • crisprQTL mapping: Assay formarly known
  • Multiplex enhancer-gene pair screen
  • Leukhemia cell line K562: Open chromatin, RNA POL II
  • Lentivirus –  high multiplicity equ 5.8 million cells
  • detected 664 enhancer-gene pairs eMNU – enhancers gene pairs
  • distance between enhancers and thier target genes
  • monogenic pooled deletion scan vs multiplexing whole transcriptome enhancer-gene pair screen

 

 

 

Thu, April 25th, 2:15 PM – 2:45 PM

From Functional Genomics to Translational Therapeutics for Cardiometabolic Disease

Session 4: Characterizing Functional Relevance of Genetic Variants

Translating Genetics into Medicine

 

Description

The application of genome-wide approaches to the study of cardiometabolic disease and its risk factors is having a major impact on our understanding of this complex disease and our ability to prevent and treat it. Genome-wide common and rare variant studies and subsequent functional genomics approaches have provided important new insights into the biological pathways involved in lipoprotein metabolism, diabetes, fatty liver disease, atherogenesis, and cardiomyopathy. When these genomic data are coupled to human phenomic science, the potential for new information related to human health and disease is immense. The application of Mendelian randomization is allowing important inferences with regard to the causality of new cardiometabolic risk factors.The intense focus on human genetics is leading to the identification of new therapeutic targets. Functional genomics studies based on these new targets is helping to understand disease pathogenesis and pointing to more precise approaches to therapies. Wider application of genetic testing in the clinical arena is likely to lead to greatly improved risk stratification and personalization of preventive and treatment paradigms. The field of cardiometabolic disease has been at the forefront of translating genetics into medicines.

Speakers

  • Daniel J. Rader, MD

    Perelman School of Medicine, University of Pennsylvania

    Presenter

Thu, April 25th, 2:45 PM – 3:15 PM

Networking Coffee Break

Translating Genetics into Medicine

  • gene burden LMNA Cardiomyopaty – LOF 
  • REVEL – 40 carriers of deleterious variants with heart failure
  • Exome-wide LOF gene burden
  • Common variANT – TRIB1 VARIANTS: ADIPOKINES, LIVER FAT AND ENZYME, CAD, TG – LDL-C HDL-C
  • SLC39A8 GENOMIC LOCUS IS ASSOCIATES – A METAL MAGNESENE-DEPENDENT ENZYME – schesophrenia – magnesene related

 

Thu, April 25th, 3:15 PM – 3:45 PM

Fueling a Genetics-driven R&D Organization

Session 5: Emerging Opportunities in Genetics for New Therapeutics

Translating Genetics into Medicine

 

Description

Discovering and developing new medicines that are safe and more highly effective than existing therapies is an increasingly challenging and expensive endeavor. Over the past decade, human genetics has given us new insights into the biology of disease and clues into how to approach the discovery of new drugs that are more likely to be successful. The challenge for would-be drug discoverers is to gain access to powerful sources of genetic associations, understand their impacts on health and disease, disentangle the underlying causal mechanisms, and amongst the many options, choose the proteins that will provide the best drug targets.

Speakers

  • Matthew Nelson, PhD, MA

    GlaxoSmithKline

    Presenter

  • 2013 – 2014 – case studies at GSK disease via genomics using the Human as the organizm for drug development since Human genome is only human’s.
  • Genetics support between indication and therapeutics
  • UK Biobank – subject-based genetic data
  1. diversity of phenotypes
  2. exome seqencing – 2021 Regeneron + 5 big Pharma – collaboration
  3. GWAS analysis of osteoarthritis in iBiobank – 64loci
  4. GWAS and asthma – onset child or adult
  5. PheWAS vs GWAS – 500,000 individuals
  6. PheWAS – IL33 LOoF – SNVs proxies for target pertubation

Thu, April 25th, 3:45 PM – 4:30 PM

Keynote Address ~ Making Medicines in the Future: Humans as Model Organism

Session 5: Emerging Opportunities in Genetics for New Therapeutics

Translating Genetics into Medicine

Description

Human genetics offers the potential to transform drug discovery. However, the path from a human genetic discovery to a new medicine remains challenging. An “allelic series” model is a concept that offers one solution to utilize human genetics for decision-making along the drug discovery journey. There are several compelling examples in immunology that fit with the allelic series concept, including TYK2 and IL2RA. Extrapolating from these and other examples, it is conceivable to build a genetic dose-response portal in the near future.

Speakers

  • Robert Plenge, MD, PhD

    Celgene

    Presenter

50%-80% TYK2 effective without infection risk increase or JAK1,2,3 activation

  • IKZF1 – Common variants associated with SLE, T1D, IBD, allergy, B-cell ALL, blood cell counts and more
  • Rare variants associate with
  • Common variant GSAW Lead SLE SNP
  • Rare LoF mutations associated with immune deficiency: Low Ig, Pleiotropic effect of other common allele
  • matching modality to mechanism
  • HOW to build a genetic dose-response portal

 

 

 

Thu, April 25th, 4:30 PM – 5:00 PM

Panel Discussion: The Future of Transformational Genetics

Session 5: Emerging Opportunities in Genetics for New Therapeutics

Translating Genetics into Medicine

Speakers

  • Christopher Brown, PhD

    University of Pennsylvania

    Presenter

  • Ruth Loos, PhD

    Icahn School of Medicine at Mount Sinai

    Presenter

  • Matthew Nelson, PhD, MA

    GlaxoSmithKline

    Presenter

  • Robert Plenge, MD, PhD

    Celgene

    Presenter

  • gene function LoF GoF
  • Pick a human phenotype for
  • drug efficacy – Human Phenotype
  • effect of multiple phenotype as proxy for ADEs on efficacy and toxicity
  • New target for drug screens

Immunotherapy Example

  • Allelic series model TYK2
  • common protein reduce TYK2 – IL23A IL12B signaling and psoriasis
  • TYK2 – Typw 1 Biabetis RA
  • Variants: Autoimmunity: If knock out risk of Infection
  • InfectionsP1104A; protective from multiple autoimmune disease
  • I684S ANAOTHE
  • PARTIAL JAK 1,2,3,

 

Thu, April 25th, 5:00 PM – 6:00 PM

Networking Reception and Poster Session

Translating Genetics into Medicine

 

Thu, April 25th, 6:15 PM – 6:15 PM

Adjourn

Translating Genetics into Medicine

 

Posters

Please see attached pdf below to view the poster abstracts.

1.  Noura Abul-Husn, MD, PhD, Icahn School of Medicine at Mount Sinai, Genomic Screening and Personalized Medicine in a Highly Diverse Biobank in New York City

  1. Margot Brandt, New York Genome Center, Validation of cis-Regulatory Transcript Variants Using Fine-mapping and CRISPR/Cas9 Genome Editing
  2. Olof S. Dallner, PhD,The Rockefeller University, Dysregulation of a long noncoding RNA by Genetic Variants Reduces Leptin Leading to a Leptin Responsive Form of Obesity
  3. Dafni Glinos, PhD, New York Genome Center, Immune Disease Variants Modulate Gene expression in CD4+ Regulatory T Cells and Inform New Drug Targets
  4. Scott MacDonnell, PhD, Regeneron Pharmaceuticals, Using iPS Derived Cardiomyocytes to Identify Casual Links Between Genetic Variants and Phenotypes – Case Study Using MYH7 R403Q as a Model of Hypertrophic Cardiomyopathy
  5. Andrew Marderstein, BS, Weill Cornell Medicine, Age, Sex, and Genetic Polymorphisms Influence the Inherent Patterns of Infiltrating Immune Cells
  6. Christian Stolte, New York Genome Center, Turning WGS Genetic Testing into a Dialogue Between Physicians and Labs with GenomeDiver
  7. Archana Tare, MS, Albert Einstein College of Medicine, Integrated Analysis of Deep Sequencing and Functional Genomics Identifies SMAD3 as a Therapeutic Target for Longevity and Healthy Aging in Humans
  8. Fang Wang, Temple University School of Pharmacy, Using Integrative Bioinformatics Analysis to Reveal Novel Drug Repurposing Targets for COPD
  9. Junke Wang, MS, The Ohio State University, Genome Wide Association Analyses Identify Pleiotropic Variants Associated with Acute Myeloid Leukemia (AML) and Myelodysplastic Syndrome (MDS) Susceptibility

Documents

Read Full Post »

18th Annual 2019 BioIT, Conference & Expo, April 16-18, 2019, Boston, Seaport World Trade Center, Track 5 Next-Gen Sequencing Informatics – Advances in Large-Scale Computing, Volume 2 (Volume Two: Latest in Genomics Methodologies for Therapeutics: Gene Editing, NGS and BioInformatics, Simulations and the Genome Ontology), Part 1: Next Generation Sequencing (NGS)

18th Annual 2019 BioIT, Conference & Expo, April 16-18, 2019, Boston, Seaport World Trade Center, Track 5 Next-Gen Sequencing Informatics – Advances in Large-Scale Computing

 

https://www.bio-itworldexpo.com/programs

https://www.bio-itworldexpo.com/next-gen-sequencing-informatics

 

 

 

Leaders in Pharmaceutical Business Intelligence (LPBI) Group

represented by Founder & Director, Aviva Lev-Ari, PhD, RN will cover this event in REAL TIME using Social Media

@pharma_BI

@AVIVA1950

@evanKristel 

 

TUESDAY, APRIL 16

2:00 – 6:30 Main Conference Registration Open

 

4:00 PLENARY KEYNOTE SESSION
Amphitheater

5:00 – 7:00 Welcome Reception in the Exhibit Hall with Poster Viewing

 

WEDNESDAY, APRIL 17

7:30 am Registration Open and Morning Coffee

8:00 PLENARY KEYNOTE SESSION
Amphitheater

9:45 Coffee Break in the Exhibit Hall with Poster Viewing

 

CURRENT AND EMERGING TECHNOLOGIES
Waterfront 3

10:50 Chairperson’s Remarks

David LaBrosse, Director, Genomics, Research, Life Sciences & Healthcare, NetApp

11:00 Long Read Sequencing

Justin Zook, PhD, Researcher, National Institute of Standards and Technology

11:20 NovoGraph: Loading 7 Human Genomes into Graphs

Evan Biederstedt, Computational Biologist, Memorial Sloan Kettering Cancer Center

11:40 Building a Usable Human Pangenome: A Human Pangenomics Hackathon Run by NCBI at UCSC

Ben Busby, PhD, Scientific Lead, NCBI Hackathons Group, National Center for Biotechnology Information (NCBI)

netapp12:00 pm Co-Presentation: Faster Genomic Data

Michael Hultner, PhD, Senior Vice President, Strategy; General Manager, US Operations, PetaGene

David LaBrosse, Director, Genomics, Research, Life Sciences & Healthcare, NetApp

Genetic testing demand is driving up the volume of genomic data that must be processed, analyzed, and stored. Gigabyte-scale genome sample files and terabyte- to petabyte-scale cohort data sets must be moved from data generation to processing to analysis sites, historically a slow, arduous process. NetApp and PetaGene will describe compression and data transfer technologies that overcome I/O bottlenecks to accelerate the movement of genomic data and reduce the time to process and analyze it.

12:30 Session Break

12:40 Luncheon Presentation I: Deep Phenotypic and Genomic Analysis of UK Biobank Data on the WuXi NextCODE Platform

Saliha Yilmaz, PhD, Research Geneticist, WuXi NextCODE

The increasing size and complexity of genetic and phenotypic data to include hundreds of thousands of participants poses a significant challenge for data storage and analysis. We demonstrate use of the GOR database and query language underlying our platform to mine UK Biobank and other datasets for efficient phenotype selection, GWAS and PheWAS, and to archive and query the results.

Seven-Bridges-rectangular1:10 NEW: Luncheon Co-Presentation II: Optimizing Drug Discovery and Development with Data-Driven Insights

Christian Frech, PhD, Associate Director, Scientific Operations, Seven Bridges

Serhat Tetikol, Research & Development Engineer, Seven Bridges

1:40 Session Break

DATA VISUALIZATION, EXPLORATION & ANALYSIS
Waterfront 3

1:50 Chairperson’s Remarks

Jeffrey Rosenfeld, PhD, Manager of the Biomedical Informatics Shared Resource and Assistant Professor of Pathology, Rutgers Cancer Institute of NJ

1:55 AbbVie’s Target and Genomics Compilation (ATGC): A Target Knowledge Platform

Rishi Gupta, PhD, Senior Research Scientist, Information Research, AbbVie, Inc.

Author: Anne-Sophie Barthelet, Scientific Developer, Discngine

ATGC is a web-based platform that allows AbbVie scientists to gather relevant information to make accurate decisions on target ID, target validation, biomarker selection and drug discovery. This platform provides in-depth information on several key pieces of information such as gene expression, RNA expression, protein expression, mouse knockout studies, etc. for each target. This talk focuses on key aspects of this application including application architecture, currently available tool sets and how various pieces of information are provided to the user.

2:25 Self Service Data Visualization and Exploration at Genentech Research

Kiran Mukhyala, Senior Software Engineer, Bioinformatics and Computational Biology, Genentech Research and Early Development

Genomic data requires specialized infrastructure to enable data exploration and analysis at scale. We built an integrated, modular, end-to-end gene expression analysis platform implementing data import, storage, processing, analysis and visualization. The multi-layered architecture of the platform supports general, high-level applications for self-service analytics, as well as infrastructure for prototyping, incubating and integrating scientist-driven innovations. The platform coexists with other in-house and commercial software to provide a wide range of genomic data analysis and visualization options for Research scientists.

2:55 Exploring and Visualizing Single-cell RNA Sequencing Data

Michael DeRan, PhD, Scientific Consultant, Diamond Age Data Science

Recent advances in single-cell RNA sequencing (scRNA-seq) technology have made this powerful method accessible to many researchers, but have not brought with them a clear, simple workflow for data analysis. As the number of scRNA-seq datasets has increased, so too has the number of analysis tools available; for those looking to perform their first scRNA-seq analysis the range of options can seem daunting. In working with our clients, I have had the opportunity to apply many different tools to scRNA-seq data from a variety of tissues and organisms. I have used this experience to select a set of tools that are flexible and suitable to many common scRNA-seq analysis tasks. In this talk I will introduce popular tools and methods for identifying cell populations, assessing differential expression and visualizing biological processes. I will discuss common pitfalls encountered in analyzing this data and make recommendations that anyone can use in their own analysis.

3:25 Refreshment Break in the Exhibit Hall with Poster Viewing, Meet the Experts: Bio-IT World Editorial Team, and Book Signing with Joseph Kvedar, MD, Author, The Internet of Healthy Things℠ (Book will be available for purchase onsite)

NGS APPROACHES FOR CANCER
Waterfront 3

4:00 Comparison of Different Approaches for Clinical Cancer Sequencing

Jeffrey Rosenfeld, PhD, Manager of the Biomedical Informatics Shared Resource and Assistant Professor of Pathology, Rutgers Cancer Institute of NJ

The sequencing of tumors is important for guiding the treatment of cancer patients. While it is agreed that there is a need to perform sequencing of the tumor, there are a wide variety of approaches ranging from paired whole genome tumor-normal sequencing to tumor-only small panel sequencing with many intermediate possibilities. Each of the approaches has a different cost and associated benefit. I will present a comparison of different methods and their efficacy for guiding cancer treatment.

4:30 Integrated NGS Analysis to Accelerate Disease Understanding for Drug Discovery

Helen Li, Director- Research IT – Biologics & Informatics, Eli Lilly and Company

5:00 Identification of Cancer Biomarker Genes

Maryam Nazarieh, PhD, Postdoctoral Researcher, Center for Bioinformatics, Universität des Saarlandes, Saarbrücken, Germany

Identification of biomarker genes plays a crucial role in disease detection and treatment. Computational approaches enhance the insights derived from experiments and reduce the efforts of biologists and experimentalists to identify biomarker genes which play key roles in complex diseases. This is essentially achieved through prioritizing a set of genes with certain attributes (1). Here, I propose a set of transcription factors that make the largest strongly connected component of the pluripotency network in embryonic stem cells as the global regulators that control differentiation process determining cell fate. This component can be controlled by a set of master regulatory genes.  The regulatory mechanisms underlying stem cells inspired us to formulate the problem where a set of master regulatory genes in regulatory networks is identified with two combinatorial optimization problems namely as minimum dominating set and minimum connected dominating set in weakly and strongly connected components. The developed methods were applied to regulatory cancer networks to identify disease-associated genes and anti-cancer drug targets in breast cancer and hepatocellular carcinoma.  As not all the nodes in the solutions are critical, a prioritization method was developed named TopControl to rank a set of candidate genes which relate to a certain disease based on systematic analysis of the genes that are differentially expressed in tumor and normal conditions. To this purpose, the NGS data were utilized taken from The Cancer Genome Atlas for matched tumor and normal samples of liver hepatocellular carcinoma (LIHC) and breast invasive carcinoma (BRCA) datasets. Moreover, the topological features were demonstrated in regulatory networks surrounding differentially expressed genes that were highly consistent in terms of using the output of several analysis tools. We present several web servers and software packages that are publicly available at no cost. The Cytoscape plugin of minimum connected dominating set identifies a set of key regulatory genes in a user provided regulatory network based on a heuristic approach. The ILP formulations of minimum dominating set and minimum connected dominating set return the optimal solutions for the aforementioned problems. Our source code is publicly available. The web servers TFmiR and TFmiR2 construct disease-, tissue-, process-specific networks for the sets of deregulated genes and miRNAs provided by a user. They highlight topological hotspots and offer detection of three- and four-node FFL motifs as a separate web service for both organisms mouse and human. 1) Maryam Nazarieh, Understanding regulatory mechanisms underlying stem cells helps to identify cancer biomarkers. Ph.D. thesis, Saarland University, Saarbrücken, Germany (2018).

5:30 Best of Show Awards Reception in the Exhibit Hall with Poster Viewing

Read Full Post »

Bio-IT World Announces 2019 Best Of Show Award Winners

UPDATED on 4/22/2019

Genomenon Wins Best of Show at Bio-IT 2019

Mastermind Genomic Search Engine Recognized for Proactively Solving Genomics Problems

Genomenon Inc., the leading genomic search company, today announced that Bio-IT World has awarded them Best of Show for the Mastermind Genomic Search Engine. Mastermind was one of 31 products considered for this prestigious award at last week’s Bio-IT World Conference & Expo in Boston.

Bio-IT World’s Best of Show Awards Program recognizes the best of the innovative product solutions for the life sciences industry, as judged by a panel of experts from academia, industry, pharma and biotech. Winners are judged based on the products’ technical merit, functionality, innovation, and in-person presentations to the judges at the show. During the April 18th awards ceremony, Mastermind was applauded as a product that was unique, important to the industry, and offered a compelling return on investment.

“The judges believe Mastermind and the team behind it are addressing not only really interesting problems in genomics, but are anticipating customer needs and solving problems proactively.” Said Bio-IT World Editor Allison Proffitt at the presentation of the award to Mark Kiel, founder and CSO, Genomenon.

“It’s quite an honor to be recognized as Best of Show at Bio-IT this year”, said Mike Klein, CEO of Genomenon. “This recognition belongs to our entire team, dedicated to putting the genomics information needed to diagnose & cure patients with cancer and rare diseases at the fingertips of doctors and researchers.”

The Mastermind Genomic Search Engine is part of the suite of genomic data services Genomenon provides to pharma, clinical, and life sciences companies. Genomenon specializes in delivering the most comprehensive collection of genomic data from the medical literature in any format needed to address any business challenge.

About Genomenon

Genomenon powers evidence-based genomics for faster; more comprehensive diagnosis and treatment decisions. Their flagship product, the Mastermind Genomic Search Engine provides immediate insight into the published genomic research for every disease, gene, and variant found in the literature.

Used by hundreds of diagnostic labs around the world, Mastermind accelerates genomic interpretation by providing unique insight into genomic relationships found in the full text of millions of scientific articles.

Pharmaceutical researchers license the Mastermind database for a comprehensive genomic landscape associated with any given disease – to identify and prioritize genomic biomarkers for drug discovery and clinical trial targets.

SOURCE

https://www.genomenon.com/genomenon-wins-best-of-show-bio-it-2019/?utm_source=press

 

Bio-IT World | Today Bio-IT World announced the 2019 winners of the Best of Show Awards Program to a packed audience at the Bio-IT World Conference & Expo. ONTOFORCE, Genomenon, Genedata, Kanda Software, and PetaGene were honored.

April 17, 2019 | BOSTON—Today Bio-IT World announced the 2019 winners of the Best of Show Awards Program to a packed audience at the Bio-IT World Conference & Expo. The awards program recognizes the best of the innovative product solutions for the life sciences industry on display at the Bio-IT World Conference & Expo in Boston.

“The innovation on display by Bio-IT World exhibitors never disappoints,” said Bio-IT World Editor Allison Proffitt. “It’s always a treat to see the work and dedication from companies firsthand, and we are excited to shine a spotlight on the best life sciences has to offer.”

The Best of Show program relies on a panel of expert judges from academia and industry who screen eligible new products and hear presentations from finalists on site. This year our judges considered 31 new products and viewed presentations on site from 12 finalists.

The judges chose five winners this year. The Bio-IT community also voted on the People’s Choice Award, selecting products that they believe measurably improve workflow or capacity, enabling better research.

The 2019 judging panel included Richard Holland, New Forest Ventures; Eleanor Howe, Diamond Age Data Science; Phillips Kuhl, Cambridge Healthtech Institute; Steve Marshall, Marshall Data Solutions; Nanguneri Nirmala, Tufts University School of Medicine; Alexander Sherman, Massachusetts General Hospital; Subi Subramanian, Vertex Pharmaceuticals; Bill Van Etten, BioTeam; Anthony Dibiase, a consultant, Shikha O’Brien, Illumina and Proffitt.

 

2019 Bio-IT World Best of Show Winners

People’s Choice

ONTOFORCE

Product Name: 2019 Linked Data Ingestion Engine

The new Data Ingestion Engine added to the existing faceted browsing and visual analytics engine in the DISQOVER platform contains the following:

– A performant and scalable Extract, Transform, Link, Infer & Load (ETLIL) engine, capable of creating massive amounts of links & performing inferencing.

– Using semantic concepts (RDF triples and ontologies) as a data reasoning model.

– Capable of performing ETLIL actions on massively linked data using commodity hardware (e.g. ~10 billion triples on single machine with 6 cores / 64Gb RAM).

– Managed by a graphical, component-based pipeline via a user-friendly frontend.

-Incremental updating of the pipeline when a data source gets updated

– Including full data transformation inspection capacities (both upstream & downstream).

– All combined with tolerance-based, process-oriented Quality Control (QC), usable for real-world data.

> Tolerance-based: no rigid schema is required

> Process oriented:

– incoming QC (verifying source data)

– within-process QC (verifying intermediate results) and

– outgoing QC (verifying end result data) can be specified.

 

“Where the Puck is Going” Award

Genomenon

Product Name: Mastermind Reporter

Genomenon uses Artificial Intelligence (AI) and Machine Learning (ML) to accelerate the literature curation process. The result is Mastermind, the most comprehensive database of genomic information in the world.

Mastermind automatically reads the titles and abstracts of every scientific medical paper published, over 30 million! The full text of papers with genomic information is then indexed to develop the most comprehensive view of the genomic landscape. To date, Mastermind has indexed the text of over 6.2 million genetic publications and covers over 4.1 million variants.

The genomic data found in the publications is processed through Genomenon’s patented Genomic Language Processing (GLP). More sophisticated than Natural Language Processing, GLP identifies every way that an author can describe a gene or variant and filters out erroneous information that can be mistaken for genomic data.

The data is then presented in a multi-faceted web interface, utilizing sophisticated algorithms designed to show the most relevant results first. Advanced filtering options allow the user to search broadly for maximal sensitivity or narrowly for optimal specificity.

The latest version of Mastermind includes Mastermind Reporter, a visualization tool that enables researchers to view, search, and filter large collections of curated data such as complete functional variant landscapes for solid tumor and heme oncology.

The Mastermind Genomic Search Engine, together with Mastermind Reporter, gives pharma and bio-pharma researchers the most comprehensive genomic landscape for any disease assembled from the published research for applications in drug discovery and clinical trial target identification.

 

“No BS AI” Award

Genedata AG

Product Name: Genedata Imagence 1.0

The new product presents a new deep learning based solution for phenotypic imaging and corresponding workflows based on convolutional neural networks. It yields improvements in automated image analysis for high content screens (HCS) including the ability to:

  • rapidly detect and define all cellular phenotypes in an HCS;
  • efficiently generate training data and on these train Deep Learning networks for subsequent classification of HCS image sets in production assays; and
  • precisely quantify the relevant pharmacology.

The solution reduces time and costs required for phenotypic image analysis by generalization of expert input, producing quality results from a new experiment takes just seconds vs. weeks typically required by manual optimization with existing legacy systems.

The solution seamlessly integrates with Genedata Screener for detailed pharmacological assessment and profiling.

 

Patient-Focused Software Award

Kanda Software

Product Names: Trapelo & LifePod Virtual Caregiver

Trapelo is the only real-time precision medicine platform that enables everyone involved in cancer care to align their decision making and reimbursement policies with the most current clinical evidence in molecular oncology.

The platform features configurable practice, lab and payor modules that facilitate real-time, evidence-based decision support that lets oncologists know what to tests to order for which patients and from which labs, and then helps them interpret the results for more informed treatment decisions – all of this in the context of the patient’s insurance policies. This optimizes efficiency while giving oncologists confidence they’ve ordered the most relevant tests based on their patient’s disease and clinical stage.

Kanda’s second application, LifePod’s Virtual Caregiver service, expands the capabilities of popular smart speakers (e.g., Amazon’s Echo) with patent-pending innovations that make LifePod an easy-to-use, 2-way voice service for seniors or chronically-ill patients living at home and their caregivers. Unlike traditional voice assistants, LifePod can be set up and controlled by a remote caregiver using LifePod’s online Portal and Dialog Management System. In addition, LifePod’s unique “initiation” capability – enabling LifePod to speak to a senior without first being “woken” by the user – means the senior doesn’t have to remember a “wake word” or how to phrase commands in order to feel more connected and supported. Instead, LifePod provides proactive, voice-first check-ins and reminders each day, and encourages senior users to access voice services (e.g., music, weather, etc.) to enhance their day, based on routines configured online by their caregivers.

 

“Nailed It” Award

PetaGene

Product Name: PetaSuite Protect v1.0

PetaSuite Protect enables organizations to manage access to their genomic data by internal and external teams, secured with fine grain regional encryption and deep auditing of data usage. Moreover, this is done in a manner transparent to existing tools and pipelines and integrates with existing on-premises and cloud storage infrastructure.

The state-of-the-art prior to PetaSuite Protect is to grant access to users of genomic data on a whole-file or whole-object basis, which means the person it belongs to might be identifiable. While some file-systems support auditing of accesses by internal users, there is very little visibility into what users are doing with this data. And when granting access to external users, there is typically no visibility at all once the data have been transferred to them.

With PetaSuite Protect, users see regular genomic files. When they access these files, they only see the specific regions that they have permissions to view. PetaSuite Protect gives live information on the use of genomic data by those parties, and the ability to immediately grant or revoke access privileges.

Organizations can allocate GA4GH-defined data management roles. Every user access is logged in a tamper-resistant and easily searchable cryptographic ledger. Not only is user and file information recorded but also details of what application was used for access, and what genomic regions were read. Furthermore, decryption and decompression are performed on the client with a transparent high-performance library, rather than by the server. This ensures high scalability across multiple users.

 

 

SOURCE

https://www.bio-itworldexpo.com/next-gen-sequencing-informatics

Read Full Post »

« Newer Posts - Older Posts »