Healthcare analytics, AI solutions for biological big data, providing an AI platform for the biotech, life sciences, medical and pharmaceutical industries, as well as for related technological approaches, i.e., curation and text analysis with machine learning and other activities related to AI applications to these industries.
taking patient concerns and voices from anecdotal to data driven system
talked about patient accrual hearing patient voice not only in ease of access but reporting toxicities
at FDA he wants to remove barriers to trial access and accrual; also talk earlier to co’s on how they should conduct a trial
Digital tech
software as medical device
regulatory path is mixed like next gen sequencing
wearables are concern for FDA (they need to recruit scientists who know this tech
Opioids
must address the crisis but in a way that does not harm cancer pain patients
smaller pain packs “blister packs” would be good idea
Clinical trial modernization
for Alzheimers disease problem is science
for diabetes problem is regulatory
different diseases calls for different trial design
have regulatory problems with rare diseases as can’t form control or placebo group, inhumane. for example ras tumors trials for MEK inhibitors were narrowly focused on certain ras mutants
Lots of promise, timeline is progressing faster but we need more education on use of the gene therapy
Regulatory issues: Cell and directly delivered gene based therapies have been now approved. Some challenges will be the ultrarare disease trials and how we address manufacturing issues. Manufacturing is a big issue at CBER and scalability. If we want to have global impact of these products we need to address the manufacturing issues
of scalability.
Pfizer – clinical grade and scale is important.
Aventis – he knew manufacturing of biologics however gene therapy manufacturing has its separate issues and is more complicated especially for regulatory purposes for clinical grade as well as scalability. Strategic decision: focusing on the QC on manufacturing was so important. Had a major issue in manufacturing had to shut down and redesign the system.
Albert: Manufacturing is the most important topic even to the investors. Investors were really conservative especially seeing early problems but when academic centers figured out good efficacy then they investors felt better and market has exploded. Now you can see investment into preclinical and startups but still want mature companies to focus on manufacturing. About $10 billion investment in last 4 years.
Valuing early-stage opportunities is challenging. Modeling will often provide a false sense of accuracy but relying on comparable transactions is more art than science. With a long lead time to launch, even the most robust estimates can ultimately prove inaccurate. This interactive panel will feature venture capital investors and senior pharma and biotech executives who lead early-stage transactions as they discuss their approaches to valuing opportunities, and offer key learnings from both successful and not-so-successful experiences.
Dr. Schoenbeck, Pfizer:
global network of liaisons who are a dedicated team to research potential global startup partners or investments. Pfizer has a separate team to evaluate academic laboratories. In Most cases Pfizer does not initiate contact. It is important to initiate the first discussion with them in order to get noticed. Could be just a short chat or discussion on what their needs are for their portfolio.
Question: How early is too early?
Luc Marengere, TVM: His company has early stage focus, on 1st in class molecules. The sweet spot for their investment is a candidate selected compound, which should be 12-18 months from IND. They will want to bring to phase II in less than 4 years for $15-17 million. Their development model is bad for academic labs. During this process free to talk to other partners.
Dr. Chaudhary, Biogen: Never too early to initiate a conversation and sometimes that conversation has lasted 3+ years before a decision. They like build to buy models, will do convertible note deals, candidate compound selection should be entering in GLP/Tox phase (sweet spot)
Merck: have MRL Venture Fund for pre series A funding. Also reiterated it is never too early to have that initial discussion. It will not put you in a throw away bin. They will have suggestions and never like to throw out good ideas.
Michael Hostetler: Set expectations carefully ; data should be validated by a CRO. If have a platform, they will look at the team first to see if strong then will look at the platform to see how robust it is.
All noted that you should be completely honest at this phase. Do not overstate your results or data or overhype your compound(s). Show them everything and don’t have a bias toward compounds you think are the best in your portfolio. Sometimes the least developed are the ones they are interested in. Also one firm may reject you however you may fit in others portfolios better so have a broad range of conversations with multiple players.
Tweets and Re-Tweets by @Pharma_BIand @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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenomic @PetrieFlom @Pharma_BI @AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 Jonathan Kahn, http://neu.edu 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 Patricia J. Zettler, FDA agency – regulation can’t reach everything, Not seen wide range abuse, FDA encourage learning and information dissemination and Educate
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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”
#DTCgenome @PetrieFlom @Pharma_BI @AVIVA1950 regulatory options: liabilities, legal requirements industry restrictions on access to material community labs, NTB IRBs self-governing bodies FBI surveillance
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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,
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome @PetrieFlom @Pharma_BI @AVIVA1950 three new regulations of ownership of genetic test information ownership even Dx of breast cancer Insurance may not cover BRCA testing
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
#DTCgenome@PetrieFlom@pharma_BI@AVIVA1950 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
In reviewing how @US_FDA reviewed various @23andMe tests, Catherine Sharkey @nyulaw discusses how some were reviewed through De Novo and others through 510(k) pathway and benefits and drawbacks of each.
Talking about her team’s @Health_Affairs paper @KayteSB shows most patients want notification of commercial use of biospecimens, most are uncomfortable about profit from biospecimens, but feel better if reinvested in research. #DTCgenome @PetrieFlom
Excellent, powerful talk-made not weaker bec/no solution is in sight. People want anonymity as adoption “birth parents” for good personal reasons, & had justified expectations of it. Children have real interests in knowing. Genetic genealogy means it will (almost) always be known …
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 #communitybio enhancement experiments? (I don’t…) #DTCgenome
Gene editing has become cheaper, easier to do in community labs. Max Mehlman @cwru compares it to where Steve Jobs and Bill Gates began with the personal computer. But US gov has listed #CRISPR as a “weapon of mass destruction” #DTCgenome @PetrieFlom
Is @23andMe ‘s test for APOE associated with Alzheimer’s different ethically speaking from its other tests? @emily_a_largent @PennMedicine discuss @PetrieFlom #DTCgenome
“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 @ #DTCGenome
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. @PetrieFlom#DTCgenome
#DTCgenomics 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)
“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 #DTCgenome
Takeaways from Regulating #DTCGenome: 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
I have been waiting so long for this and #dtcgenome is finally here!
Alex Pearlman 💡added,
Vardit Ravitsky@VarditRavitsky
Kicking off what I expect to be a fascinating evening of discussions of consumer genetics at the American Acedemy of Arts and Sciences @americanacad organized by @PetrieFlom@Harvard#DTCgenome kudos …
Many of the regulatory issues/possibilities raised by DIYbio will presented by @pzettler (co-authors @jsherkow and @cjguerrini) “What can we do with what we’ve already got?” #DTCgenome
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. @PetrieFlom#DTCgenome
Is @Madonna right, asks Vertinsky @EmoryLaw,to be worried about “genetic #Paparazzi” publishing of information derived from your genetic information (especially discarded DNA). Or a presidential candidate @potus ? What role for law? #DTCgenome @PetrieFlom
Interesting points by @pzettler: 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. #DTCgenome
We have not seen much FDA involvement in “genetic biohacking” says @pzettler, 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 #dtcgenome@PetrieFlom
On genetic ownership and federalism. @contreraslegals discusses the 5 states that have protected genetic property and skeptical about how well thought out the common law property approach has been. #DTCgenome @PetrieFlom @UUtah
“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) @ #DTCGenome
I feel simultanously very overwhelmed and very excited #DTCGenome
Alex Pearlman 💡added,
Vardit Ravitsky@VarditRavitsky
A very full house today (480 people registered!) for the Consuming Genetics conference @HarvardLaw@PetrieFlom. @CohenProf opening a day that promises to be fascinating. Kudos also @HankGreelyLSJU …
“Whatever the boundaries of FDA’s authority are [re: biohacking]…there are important questions about how it should use that authority.” @pzettler @ #DTCGenome
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 @ #DTCGenome
DIY gene therapy, CRISPR, etc. – failures likely to cause more harm (inadvertent) than successes. Speaker at #DTCgenome analogizes to regulation of drones, beer, computer hacking many stakeholders with competing interests.
“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 @KayteSB#DTCgenome – at Wasserstein Hall
How do we deal with Publicity Rights in DNA? Thought-provoking talk #DTCgenome by Professor Vertinsky of @EmoryLaw The “Genetic Paparazzi” conundrum – at Wasserstein Hall
@contreraslegals 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 #DTCgenome
Professor Kif Augustine-Adams of @BYULawSchool 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. #DTCgenome – at Wasserstein Hall
“Wellness Programs” by Employers or Insurance underwriters – how should they deal with collecting genetic data? @_anyaprince suggests Employers / Insurers only act as mediators between members and DTC genetic testing companies, and only get aggregate, anonymized data #DTCgenome – at Harvard Law School
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.” #DTCGenome
A lot of thought-provoking posts this month from leading scholars in law, ethics, genetics. Get immersed in the issues before Friday’s #DTCgenome@petrieflom conference!
Alex Pearlman 💡added,
Petrie-Flom Center@PetrieFlom
We have a digital symposium running as a complement to our Annual Conference on #DTCgenome this week— Check it out! Posts include this one and many more! “Ethnic Identity and Genomics Research: Toward Creating Culturally Sensitive Policies and Practices” …
It’s not every day that a serious conference on #DTCgenome discusses Brad Pitt in a bath leaving behind sperm that later impregnates a woman and the legal challenges that emerge. Well done @NitaFarahany@CohenProf@profmohapatra – you managed to get everyone’s attention 🙂
Anguishing story told with elegance and grace. We are all utterly unprepared for generations of secrets unearthed by 26 million ++ #DTCGeneticTesting kits sold to date. @PetrieFlom#DTCGenome#ethics
Ronnie S Stangler, MD added,
I. Glenn Cohen@CohenProf
You can hear a pin drop in the auditorium as Kif Augustine @BYULawSchool tells a very personal tale about how #dtcgenome reveals a story of rape and a lost half sister. Secrets, lies, ancestry, DNA, and Mormon Orthodoxy in 1959 Utah. @PetrieFlom
“Civilized societies are nearby, believe it or not!” @VarditRavitsky explains how when #NIPT is implemented in Canada, it means the government pays for it. (We are all v jealous about your developed country to the north, Vardit) #DTCgenome
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 #DTCGenome
Tala Berro added,
Nicholson Price@WNicholsonPrice
Terrific representation of women at #DTCGenome! Speakers: 14F, 6M Moderators: 4F, 2M…
Are celebs and politicians who have cleaning crews come in when they leave a place, like Madonna, paranoid or prophetic? It’s only a matter of time until we’re dealing with “genetic paparazzi” says Liza Vertinsky. #DTCgenome
Potential consequences are greater when editing germline compared with somatic cells, because its modification can allow for the generational transmission of altered genes. @scottschweikart laying out priciplist bioethical concerns of #geneediting#DTCgenome
Health information should not be treated as property to protect individuals, says @contreraslegals. Instead, we should continue to enhance existing regulatory and liability rules to safeguard individual privacy and data security. #DTCgenome
There has been a relunctance by courts to recognize information as property, but that could change drastically when it comes to genetic data. @contreraslegals#DTCgenome
Major disconnect with the ideas of ways to convert health data into what we have traditionally considered property-like rights. #dtcgenome @contreraslegals
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 @ #DTCgenome
Great turnout at @Harvard_Law@PetrieFlom DTC genomics conference today. Tour de force discussion of the issues facing the personal genomics industry and consumers today. #DTCgenome@SJQ_LABS
Jorge Contreras added,
I. Glenn Cohen@CohenProf
With over 400 registrants #dtcgenome @PetrieFlom is off to a great start. Follow that hashtag for our conference “Consuming Genetics: Ethical and Legal Considerations of New Technologies”
“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. #DTCgenome@VeritasGenetics
The amazing @VarditRavitsky 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.” #DTCgenome @PetrieFlom
Ultrasound technology made the uterus transparent, so parents could see their child before it was born. In the future, #NIPT could make the fetus itself transparent, so parents can see the whole genome. Many associated ethical challenges, both pre- and post-birth #DTCgenome
The #GoldenStateKiller case opened our eyes to how law enforcement can use direct-to-consumer testing data. A recent article explores privacy and discrimination issues and loopholes in the era of direct-to-consumer genetic testing: http://bit.ly/2PJkfRS#GCchat
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) #DTCGenome
When #DTCGenome 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
Grateful for the opportunity to participate in the @PetrieFlom Annual Conference – thanks @CohenProf@NitaFarahany@HankGreelyLSJU@lexikon1 Carmel Sachar & Cristine Hutchison-Jones for a great line-up & planning- learned a lot & left with many more ?s to consider #dtcgenome
Center for Bioethics Retweeted AMA Journal of Ethics
#Regulations#GeneEditing & #PublicTrust: “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.” @PetrieFlom#Crispr
Center for Bioethics added,
AMA Journal of Ethics@JournalofEthics
Check out this blog post by AMA Journal of Ethics legal editor, @scottschweikart. Published as part of @PetrieFlom‘s 2019 conference, “Consuming Genetics: Ethical and Legal Considerations of New Technologies.” http://spr.ly/6013EiQ1S
There’s no prospect of potentially suing @23andme because of the disclaimers and forced arbitration put into agreements by the company @GaryMarchant1
#DTCgenome@_anyaprince 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)
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. #DTCgenome@_anyaprince
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 @jrobertsuhlc#DTCgenome – at Wasserstein Hall
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 #DTCgenome
.@_anyaprince 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? #DTCGenome
.@GaryMarchant1 takeaway: w/r/t liability, #DTCGenome companies are essentially immune because of disclaimers & arbitration clauses; doctors may be on the hook.
Q by @laurahercher: 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! #DTCgenome#GCChat
Major disconnect with the ideas of ways to convert health data into what we have traditionally considered property-like rights. #dtcgenome @contreraslegals
Great point from @contreraslegals about how to treat “control group” genetic data, from those without the indicative genetic information, in arguments for genetic ownership/remuneration arguments. #dtcgenome@PetrieFlom
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) #DTCgenome@profmohapatra
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. –@KayteSB @ #DTCGenome
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 #DTCgenome
.@NitaFarahany is an active moderator! Asking excellent questions (including mine–how do we react to patients not ‘getting’ consent info?, and then @CohenProf‘s on right not to be a genetic parent! Need to think on your feet w/ Nita around!) #DTCgenome
Yeah that looks simple! Barbara Evans @UHouston on what the regulatory pathway issupposed to look like and what makes it challenging in the world of genetics using charts from @theNASEM 2017 reports. And an ode to the “pink golden retriever” we all want #DTCgenome@PetrieFlom
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 #DIYBio#DTCgenome
How well are #DTCgenome companies doing in complying with the privacy principles they themselves signed on to? James Hazel talks about the work he and Chris Slobogin @VanderbiltU @vanderbiltlaw have done. @PetrieFlom
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 #DTCgenome@PetrieFlom
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 #dtcgenome
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 #DTCgenome@PetrieFlom
You can hear a pin drop in the auditorium as Kif Augustine @BYULawSchool tells a very personal tale about how #dtcgenome reveals a story of rape and a lost half sister. Secrets, lies, ancestry, DNA, and Mormon Orthodoxy in 1959 Utah. @PetrieFlom
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 #DTCgenome
Tala Berro added,
Petrie-Flom Center@PetrieFlom
Jonathan Kahn: Geneticists need to recognize their responsibility in the case of underrepresentation of racial diversiy in genetic databases and research. #DTCgenome
Natalie Ram @ubaltlaw@UMDLaw 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? #DTCgenome
Roche said certain activities will remain at the current Spark Therapeutics site in Philadelphia, while others will be consolidated into the broader pharmaceuticals division. (Roche/Spark Therapeutics)
Roche has recently launched a “fundamental reorganization” of Spark Therapeutics, the gene therapy unit the Swiss pharma bought for $4.3 billion in 2019.
Roche described the restructuring in its annual finance report (PDF) published in late January. The move is part of the company’s wider strategic change across its pharma division, a company spokesperson told Fierce Pharma.
The entire Spark team is subject to reshuffling, raising a question of whether the Spark brand itself will be preserved. Of the 647 employees that Spark employed as of April 17, 337 employees will be laid off, while the rest 310 will have their jobs integrated into the parent Roche, a Roche spokesperson told Fierce Pharma in an update.
Details of the plans, such as which functions those 310 people will assume at Roche, are still being finalized. In the January report, Roche said certain activities will remain at the current Spark site in Philadelphia, while others will be consolidated into the broader pharmaceuticals division.
“By fully integrating Spark into Roche, we more closely align,” the Roche spokesperson said.
Roche is currently working through the integration planning and expects to have details later this year, the spokesperson said.
In late 2021, Roche committed to a $575 million plan to build a new 500,000-square-foot gene therapy innovation center in Philadelphia. The multistory facility continues to be built, according to the spokesperson.
Quick update on this week’s news: The University City life sciences company’s acquisition by Swiss pharma giant Roche is the biggest acquisition ever of a VC-backed company within city limits, per PitchBook and PACT.
The eye-popping $4.8 billion sticker price on Spark Therapeutics’acquisition deal with Roche announced on Monday is shaping up to be the largest exit ever within city limits for a venture-backed company, according to data from financial data provider PitchBook and the Philadelphia Alliance for Capital and Technologies (PACT).
“Filtering down to just Philadelphia proper does reveal that Spark Therapeutics, once the deal closes, will be the biggest exit ever for Philly-based venture-backed exits,” the company said in an email, citing data from an upcoming report.
According to the Seattle-based company’s data, the current holder of the largest Philly-proper exit title goes to Avid Radiopharmaceuticals, which in 2010 announced its acquisition by Lilly in a deal valued at up to $800 million.
Founded in 2013, Spark is a publicly traded spinout of Children’s Hospital of Philadelphia (CHOP), which invested $33 million in the company. The Philadelphia Inquirer reports that CHOP stands to reap a total return of $430 million for its minority stake in Spark Therapeutics.
As part of the acquisition deal, the company will remain based out of 3711 Market St., and continue to do business as a standalone Roche company.
“This transaction demonstrates the enormous value that global biotech companies like Roche see in gene therapy, a field in which Philadelphia is the unquestioned leader,” said Saul Behar, senior VP of advancement and strategic initiatives at the University City Science Center, the West Philly research park where Spark began and grew its operations. “[This] further validates Greater Philadelphia’s status as a biotech hub with a very bright future.”
Spark CEO Jeff Marrazzo said the deep pool of resources from Roche, the company plans to “accelerate the development of more gene therapies for more patients for more diseases and further expedite our vision of a world where no life is limited by genetic disease.”
Other articles on Gene Therapy and Retinal Disease on this Open Access Online Journal include:
The second annual PureTech Health BIG Summit brings together an elite ensemble of leading scientific researchers, investors, and CEOs and R&D leaders from major pharmaceutical, technology, and biotech companies.
The BIG Summit is designed to stimulate ideas that will have an impact on existing pipelines and catalyze future interactions among a group of delegates that represent leaders and innovators in their fields.
Please follow the discussion on Twitter using #BIGAxisSummit
By invitation only; registration is non-transferable.
For more information, please contact PureTechHealthSummit@PureTechHealth.com
Back for final sessions at #BIGAxisSummit. @PureTechH Jim Harper of Sonde Health talking about how voice data — pacing, fine motor articulation, oscillation — can point the way to objective, quantitative measures for detecting and monitoring depression.
Paul Biondi at #BIGAxisSummit : What makes big deals happen is financial, and *deep conviction* of a big future fit. Disproportionate valuation from bidders is expected.
Love this. We often reduce everything to mathematical analyses to champion or ridicule deals. Not that simple
Bob Langer (@MIT) asks how #lymphatics affected by #aging. Santambrogio: typically blame aging #immune cells for increased disease, but aging affects lymphatics too (less efficient trafficking shown). Rejuvenating these could affect several aging-related diseases #BigAxisSummit
JP Morgan Healthcare Conference Update: Sage, Mersana, Shutdown Woes and Babies
Published: Jan 10, 2019By Alex Keown
With the J.P. Morgan Healthcare Conference winding down, companies remain busy striking deals and informing investors about pipeline advances. BioSpace snagged some of the interesting news bits to come out of the conference from Wednesday.
SAGE Therapeutics – Following a positive Phase III report that its postpartum depression treatment candidate SAGE-217 hit the mark in its late-stage clinical trial, Sage Therapeutics is eying the potential to have multiple treatment options available for patients. At the start of J.P. Morgan, Sage said that patients treated with SAGE-217 had a statistically significant improvement of 17.8 points in the Hamilton Rating Scale for Depression, compared to 13.6 for placebo. The company plans to seek approval for SAGE-2017, but before that, the FDA is expected to make a decision on Zulresso in March. Zulresso already passed muster from advisory committees in November, and if approved, would be the first drug specifically for postpartum depression. In an interview with the Business Journal, Chief Business Officer Mike Cloonan said the company believes there is room in the market for both medications, particularly since the medications address different patient populations.
Mersana Therapeutics – After a breakup with Takeda Pharmaceutical and the shelving of its lead product, Cambridge, Mass.-based Mersana is making a new path. Even though a partial clinical hold was lifted following the death of a patient the company opted to shelve development of XMT-1522. During a presentation at JPM, CEO Anna Protopapas noted that many other companies are developing therapies that target the HER2 protein, which led to the decision, according to the Boston Business Journal. Protopapas said the HER2 space is highly competitive and now the company will focus on its other asset, XMT-1536, an ADC targeting NaPi2b, an antigen highly expressed in the majority of non-squamous NSCLC and epithelial ovarian cancer. XMT-1536 is currently in Phase 1 clinical trials for NaPi2b-expressing cancers, including ovarian cancer, non-small cell lung cancer and other cancers. Data on XMT-1536 is expected in the first half of 2019.
Novavax – During a JPM presentation, Stan Erck, CEO of Novavax, pointed to the company’s RSV vaccine, which is in late-stage development. The vaccine is being developed for the mother, in order to protect an infant. The mother transfers the antibodies to the infant, which will provide the baby with protection from RSV in its first six months. Erck called the program historic. He said the Phase III program is in its fourth year and the company has vaccinated 4,636 women. He said they are tracking the women and the babies. Researchers call the mothers every week through the first six months of the baby’s life to acquire data. Erck said the company anticipates announcing trial data this quarter. If approved, Erck said the market for the vaccine could be a significant revenue driver.
“You have 3.9 million birth cohorts and we expect 80 percent to 90 percent of those mothers to be vaccinated as a pediatric vaccine and in the U.S. the market rate is somewhere between $750 million and a $1 billion and then double that for worldwide market. So it’s a large market and we will be first to market in this,” Erck said, according to a transcript of the presentation.
Denali Therapeutics – Denali forged a collaboration with Germany-based SIRION Biotech to develop gene therapies for central nervous disorders. The two companies plan to develop adeno-associated virus (AAV) vectors to enable therapeutics to cross the blood-brain barrier for clinical applications in neurodegenerative diseases including Parkinson’s, Alzheimer’s disease, ALS and certain other diseases of the CNS.
AstraZeneca – Pharma giant AstraZeneca reported that in 2019 net prices on average across the portfolio will decrease versus 2018. With a backdrop of intense public and government scrutiny over pricing, Market Access head Rick Suarez said the company is increasing its pricing transparency. Additionally, he said the company is looking at new ways to price drugs, such as value-based reimbursement agreements with payers, Pink Sheet reported.
Amarin Corporation – As the company eyes a potential label expansion approval for its cardiovascular disease treatment Vascepa, Amarin Corporation has been proactively hiring hundreds of sales reps. In the fourth quarter, the company hired 265 new sales reps, giving the company a sales team of more than 400, CEO John Thero said. Thero noted that is a label expansion is granted by the FDA, “revenues will increase at least 50 percent over what we did in the prior year, which would give us revenues of approximate $350 million in 2019.”
Government Woes – As the partial government shutdown in the United States continues into its third week, biotech leaders at JPM raised concern as the FDA’s carryover funds are dwindling. With no new funding coming in, reviews of New Drug Applications won’t be able to continue past February, Pink Sheet said. While reviews are currently ongoing, no New Drug Applications are being accepted by the FDA at this time. With the halt of NDA applications, that has also caused some companies to delay plans for an initial public offering. It’s hard to raise potential investor excitement without the regulatory support of a potential drug approval. During a panel discussion, Jonathan Leff, a partner at Deerfield Management, noted that the ongoing government shutdown is a reminder of how “overwhelmingly dependent the whole industry of biotech and drug development is on government,” Pink Sheet said.
Other posts on the JP Morgan 2019 Healthcare Conference on this Open Access Journal include:
Bluebird Bio’s Lenti D has been granted as “breakthrough therapy designation” by FDA for the treatment of patients with cerebral adrenoleukodystrophy (CALD), or Lorenzo’s Oil disease due to optimistic data from current ongoing Phase 2/3 study. This therapy contains using patient’s own immature bone marrow cells and modifying them to include a functional copy of ABCD1 gene which permits the expression of functional ALD, the deficient protein in the patient population.
In addition, the data indicated that the safety profile of Lenti-D remains consistent with myeloablative chemotherapy and no graft versus host disease or treatment related mortality were reported. Initial findings from the ongoing Starbeam Study (ALD-102) assessing the investigational gene therapy in boys with CALD aged 17 years or younger who do not have a matched sibling donor were published in the New England Journal of Medicine in October 2017 and indicated that the drug hit its main effectiveness endpoint. In the study, 88% (n=15) of patients infused with Lenti-D remained alive and free of major functional disabilities at 2 years post-treatment.
According to Mohammed Asmal, Vice President, Clinical Development at bluebird bio “The mechanism by which this would work is very much like how stem cell therapy transplantation is able to correct the disease. The theory was certainly there, it just relied on someone, essentially, being willing to develop the vector and then try it on patients who did not have any other feasible options for transplant, and who had poor predicted outcomes for transplant survival.”
Currently, the only available therapeutic option for patients with CALD is allogeneic hematopoietic stem cell transplant (HSCT). Whereas clinical benefit has been reported if made early during CALD progression, possible complications of allogeneic HSCT can be fatal. According to David Davison, chief medical officer at Bluebird Bio “FDA’s Breakthrough Therapy designation for Lenti-D brings new hope to the patients and families affected by this devastating disease”.
The HFE H63D variant confers an increased risk for hypertension, no increased risk for adverse cardiovascular events or substantial left ventricular remodeling
Reporter: Aviva Lev-Ari, PhD, RN
Conclusion:
The HFE H63D variant confers an increased risk for hypertension per allele and, given its frequency, accounts for a significant number of cases of hypertension. However, there was no increased risk for adverse cardiovascular events or substantial left ventricular remodeling.
HFE H63D Polymorphism and the Risk for Systemic Hypertension, Myocardial Remodeling, and Adverse Cardiovascular Events in the ARIC Study
Originally published12 Nov 2018Hypertension. 2018;0:HYPERTENSIONAHA.118.11730
Abstract
H63D has been identified as a novel locus associated with the development of hypertension. The quantitative risks for hypertension, cardiac remodeling, and adverse events are not well studied. We analyzed white participants from the ARIC study (Atherosclerosis Risk in Communities) with H63D genotyping (N=10 902). We related genotype status to prevalence of hypertension at each of 5 study visits and risk for adverse cardiovascular events. Among visit 5 participants (N=4507), we related genotype status to echocardiographic features. Frequencies of wild type (WT)/WT, H63D/WT, and H63D/H63D were 73%, 24.6%, and 2.4%. The average age at baseline was 54.9±5.7 years and 47% were men. Participants carrying the H63D variant had higher systolic blood pressure (P=0.004), diastolic blood pressure (0.012), and more frequently had hypertension (P<0.001). Compared with WT/WT, H63D/WT and H63D/H63D participants had a 2% to 4% and 4% to 7% absolute increase in hypertension risk at each visit, respectively. The population attributable risk of H63D for hypertension among individuals aged 45 to 64 was 3.2% (95% CI, 1.3–5.1%) and 1.3% (95% CI, 0.0–2.4%) among individuals >65 years. After 25 years of follow-up, there was no relationship between genotype status and any outcome (P>0.05). H63D/WT and H63D/H63D genotypes were associated with small differences in cardiac remodeling. In conclusion, the HFE H63D variant confers an increased risk for hypertension per allele and, given its frequency, accounts for a significant number of cases of hypertension. However, there was no increased risk for adverse cardiovascular events or substantial left ventricular remodeling.
Correspondence to Scott D. Solomon, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, 75 Francis St, Boston, MA 02115. Email ssolomon@rics.bwh.harvard.edu
Single-cell Genomics: Directions in Computational and Systems Biology – Contributions of Prof. Aviv Regev @Broad Institute of MIT and Harvard, Cochair, the Human Cell Atlas Organizing Committee with Sarah Teichmann of the Wellcome Trust Sanger Institute
Curator: Aviva Lev-Ari, PhD, RN
4.1.3 Single-cell Genomics: Directions in Computational and Systems Biology – Contributions of Prof. Aviv Regev @Broad Institute of MIT and Harvard, Cochair, the Human Cell Atlas Organizing Committee with Sarah Teichmann of the Wellcome Trust Sanger Institute, Volume 2 (Volume Two: Latest in Genomics Methodologies for Therapeutics: Gene Editing, NGS and BioInformatics, Simulations and the Genome Ontology), Part 4: Single Cell Genomics
Dana Pe’er, PhD, now chair of computational and systems biology at the Sloan Kettering Institute at the Memorial Sloan Kettering Cancer Center and a member of the Human Cell Atlas Organizing Committee,
what really sets Regev apart is the elegance of her work. Regev, says Pe’er, “has a rare, innate ability of seeing complex biology and simplifying it and formalizing it into beautiful, abstract, describable principles.”
Dr. Aviv Regev, an MIT biology professor who is also chair of the faculty of the Broad and director of its Klarman Cell Observatory and Cell Circuits Program, was reviewing a newly published white paper detailing how the Human Cell Atlas is expected to change the way we diagnose, monitor, and treat disease at a gathering of international scientists at Israel’s Weizmann Institute of Science, 10/2017.
For Regev, the importance of the Human Cell Atlas goes beyond its promise to revolutionize biology and medicine. As she once put it, without an atlas of our cells, “we don’t really know what we’re made of.”
Regev, turned to a technique known as RNA interference (she now uses CRISPR), which allowed her to systematically shut genes down. Then she looked at which genes were expressed to determine how the cells’ response changed in each case. Her team singled out 100 different genes that were involved in regulating the response to the pathogens—some of which weren’t previously known to be involved in immune function. The study, published in Science, generated headlines.
The project, the Human Cell Atlas, aims to create a reference map that categorizes all the approximately 37 trillion cells that make up a human. The Human Cell Atlas is often compared to the Human Genome Project, the monumental scientific collaboration that gave us a complete readout of human DNA, or what might be considered the unabridged cookbook for human life. In a sense, the atlas is a continuation of that project’s work. But while the same DNA cookbook is found in every cell, each cell type reads only some of the recipes—that is, it expresses only certain genes, following their DNA instructions to produce the proteins that carry out a cell’s activities. The promise of the Human Cell Atlas is to reveal which specific genes are expressed in every cell type, and where the cells expressing those genes can be found.
Regev says,
The final product, will amount to nothing less than a “periodic table of our cells,” a tool that is designed not to answer one specific question but to make countless new discoveries possible.
Sequencing the RNA of the cells she’s studying can tell her only so much. To understand how the circuits change under different circumstances, Regev subjects cells to different stimuli, such as hormones or pathogens, to see how the resulting protein signals change.
“the modeling step”—creating algorithms that try to decipher the most likely sequence of molecular events following a stimulus. And just as someone might study a computer by cutting out circuits and seeing how that changes the machine’s operation, Regev tests her model by seeing if it can predict what will happen when she silences specific genes and then exposes the cells to the same stimulus.
By sequencing the RNA of individual cancer cells in recent years—“Every cell is an experiment now,” she says—she has found remarkable differences between the cells of a single tumor, even when they have the same mutations. (Last year that work led to Memorial Sloan Kettering’s Paul Marks Prize for Cancer Research.) She found that while some cancers are thought to develop resistance to therapy, a subset of melanoma cells were resistant from the start. And she discovered that two types of brain cancer, oligodendroglioma and astrocytoma, harbor the same cancer stem cells, which could have important implications for how they’re treated.
As a 2017 overview of the Human Cell Atlas by the project’s organizing committee noted, an atlas “is a map that aims to show the relationships among its elements.” Just as corresponding coastlines seen in an atlas of Earth offer visual evidence of continental drift, compiling all the data about our cells in one place could reveal relationships among cells, tissues, and organs, including some that are entirely unexpected. And just as the periodic table made it possible to predict the existence of elements yet to be observed, the Human Cell Atlas, Regev says, could help us predict the existence of cells that haven’t been found.
This year alone it will fund 85 Human Cell Atlas grants. Early results are already pouring in.
In March, Swedish researchers working on cells related to human development announced they had sequenced 250,000 individual cells.
In May, a team at the Broad made a data set of more than 500,000 immune cells available on a preview site.
The goal, Regev says, is for researchers everywhere to be able to use the open-source platform of the Human Cell Atlas to perform joint analyses.
Eric Lander, PhD, the founding director and president of the Broad Institute and a member of the Human Cell Atlas Organizing Committee, likens it to genomics.
“People thought at the beginning they might use genomics for this application or that application,” he says. “Nothing has failed to be transformed by genomics, and nothing will fail to be transformed by having a cell atlas.”
“How did we ever imagine we were going to solve a problem without single-cell resolution?”
NIH to Award Up to $12M to Fund DNA, RNA Sequencing Research: single-cell genomics, sample preparation, transcriptomics and epigenomics, and genome-wide functional analysis.
To develop new tissues, researchers at the Medical Research Council Center for Regenerative Medicine at the University of Edinburgh have found that stem cells transformed into 3-D liver tissue can support liver function when implanted into the mice suffering with a liver disease.
The scientists stimulated human embryonic stem cells and induced pluripotent stem cells to mature pluripotent stem cells into liver cells, hepatocytes. Hepatocytes are the chief functional cells of the liver and perform an astonishing number of metabolic, endocrine and secretory functions. Hepatocytes are exceptionally active in synthesis of protein and lipids for export. The cells are grown in 3-D conditions as small spheres for over a year. However, keeping the stem cells as liver cells for a long time is very difficult, because the viability of hepatocytes decreases in-vitro conditions.
Succeeding the discovery, the team up with materials chemists and engineers to detect appropriate polymers that have already been approved for human use that can be developed into 3-D scaffolds. The best material to use a biodegradable polyester, called polycaprolactone (PCL).PCL is degraded by hydrolysis of its ester linkages in physiological conditions (such as in the human body) and it is especially interesting for the preparation of long term implantable devices, owing to its degradation which is even slower than that of polylactide. They spun the PCL into microscopic fibers that formed a scaffold one centimeter square and a few millimeters thick.
At the same time, hepatocytes derived from embryonic cells had been grown in culture for 20 days and were then loaded onto the scaffolds and implanted under the skin of mice.Blood vessels successfully grew on the scaffolds with the mice having human liver proteins in their blood, demonstrating that the tissue had successfully integrated with the circulatory system. The scaffolds were not rejected by the animals’ immune systems.
The scientists tested the liver tissue scaffolds in mice with tyrosinaemia,a potentially fatal genetic disorder where the enzymes in the liver that break down the amino acid tyrosine are defective, resulting in the accumulation of toxic metabolic products. The implanted liver tissue aided the mice with tyrosinaemia to break down tyrosine and the mice finally lost less weight, had less buildup of toxins in the blood and exhibited fewer signs of liver damage than the control group that received empty scaffolds.
According to Rob Buckle, PhD, Chief Science Officer at the MRC, “Showing that such stem cell-derived tissue is able to reproduce aspects of liver function in the lab also offers real potential to improve the testing of new drugs where more accurate models of human tissue are needed”. It is believed that the discovery could be the next step towards harnessing stem cell reprogramming technologies to provide renewable supplies of liver tissue products for transplantation.
Researchers have embraced CRISPR gene-editing as a method for altering genomes, but some have reported that unwanted DNA changes may slip by undetected. The tool can cause large DNA deletions and rearrangements near its target site on the genome. Such alterations can confuse the interpretation of experimental results and could complicate efforts to design therapies based on CRISPR. The finding is in line with previous results from not only CRISPR but also other gene-editing systems.
CRISPR -Cas9 gene editing relies on the Cas9 enzyme to cut DNA at a particular target site. The cell then attempts to reseal this break using its DNA repair mechanisms. These mechanisms do not always work perfectly, and sometimes segments of DNA will be deleted or rearranged, or unrelated bits of DNA will become incorporated into the chromosome.
Researchers often use CRISPR to generate small deletions in the hope of knocking out a gene’s function. But when examining CRISPR edits, researchers found large deletions (often several thousand nucleotides) and complicated rearrangements of DNA sequences in which previously distant DNA sequences were stitched together. Many researchers use a method for amplifying short snippets of DNA to test whether their edits have been made properly. But this approach might miss larger deletions and rearrangements.
These deletions and rearrangements occur only with gene-editing techniques that rely on DNA cutting and not with some other types of CRISPR modifications that avoid cutting DNA. Such as a modified CRISPR system to switch one nucleotide for another without cutting DNA and other systems use inactivated Cas9 fused to other enzymes to turn genes on or off, or to target RNA. Overall, these unwanted edits are a problem that deserves more attention, but this should not stop anyone from using CRISPR. Only when people use it, they need to do a more thorough analysis about the outcome.
2012pharmaceutical
sjwilliamspa