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.
Slowing Breast Cancer Tumor Growth Rate in Double Positive [Estrogen Receptor (ER) and Progesterone Receptor (PR)] BRCA Diagnosed Women – The Potential for a Combination Drug Therapy: Tamoxifen AND Progesterone
Reporter: Aviva Lev-Ari, PhD, RN
This post is on the study published in Nature on 08 July 2015 in which it is reported that PR functions as a molecular rheostat to control ERα chromatin binding and transcriptional activity.
These findings on the effects observed in the study that has used Progesterone and not its derivatives in
Mohammed H. et al. Progesterone receptor modulates estrogen receptor-α action in breast cancer, Nature (2015), DOI:10.1038/nature14583
should be read differently and not be confused with studies on contraceptives, and certain forms of Hormone Replacement Therapy, contain derivatives of progesterone (e.g. medroxyprogesterone acetate, MPA) – these seem to act differently.
So headlines claiming that a hormone ‘found in The Pill slows growth of tumours’ are slightly inaccurate.]
The Potential for a Combination Drug Therapy: Tamoxifen AND Progesterone requires clinical trials.
Every diagnosis of Breast Cancer in Women needs to be accompanied by testing for Double Positive: [Estrogen Receptor (ER) and Progesterone Receptor (PR)] in every Woman diagnosed with BRCA.
Treatment for a Woman’s diagnosis with a Double Positive should be different than triple negative
Understanding the progesterone receptor’s role as a molecular handbrake on oestrogen-fuelled growth could also explain the observation that breast cancers frequently evolve to get rid of their progesterone receptors – this is an advantage to cancer, helping it grow quicker.
This new research offers a unique opportunity to exploit the braking action of the receptor with hormone therapy to improve breast cancer outcomes. According to Dr Carroll, this is precisely what needs to be done, and the next steps are obvious.
“The results are pretty clear and potentially have direct benefits for many women with breast cancer,” he told us.
“We’re already discussing a clinical trial to test whether giving women with ER/PR double-positive breast cancer progesterone, alongside oestrogen-blocking drugs, helps more women survive this disease”.
If proven successful, they suggest that it could benefit up to half of women diagnosed with the disease.
Progesterone receptor (PR) expression is used as a biomarker of oestrogen receptor-α (ERα) function and breast cancer prognosis. Here we show that PR is not merely an ERα-induced gene target, but is also an ERα-associated protein that modulates its behaviour. In the presence of agonist ligands, PR associates with ERα to direct ERα chromatin binding events within breast cancer cells, resulting in a unique gene expression programme that is associated with good clinical outcome. Progesterone inhibited oestrogen-mediated growth of ERα+ cell line xenografts and primary ERα+ breast tumour explants, and had increased anti-proliferative effects when coupled with an ERα antagonist. Copy number loss of PGR, the gene coding for PR, is a common feature in ERα+ breast cancers, explaining lower PR levels in a subset of cases. Our findings indicate that PR functions as a molecular rheostat to control ERα chromatin binding and transcriptional activity, which has important implications for prognosis and therapeutic interventions.
Other related articles in this Open Access Online Scientific Journal include the following:
Mutation D538G – a novel mechanism conferring acquired Endocrine Resistance causes a change in the Estrogen Receptor and Treatment of Breast Cancer with Tamoxifen
The 11th Annual Personalized Medicine Conference, November 18-19, 2015, Joseph B. Martin Conference Center of the Harvard New Research Building at Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA
Reporter: Aviva Lev-Ari, PhD, RN
Real Time Conference Press Coverage: Aviva Lev-Ari, PhD, RN
Learn from past and present leaders of national professional societies that are invested in Personalized/Precision Medicine as they share their thoughts, experiences, and ideas during the Conversation: “Perspectives from Professional Societies” session on Wednesday, November 18.
Subject: “Must See!” Panels at the Personalized Medicine Conference
Conversation Participants:
José Baselga, M.D., Ph.D.
Richard Friedberg, M.D., Ph.D., FCAP
James L. Madara, M.D.
Cynthia Morton, Ph.D.
President, AACR
President, CAP
Executive Vice President & CEO, AMA
Past President, ASHG
“Topics were a perfect mix – VERY compelling”
– 2014 Conference Attendee
Conference Organizers: Partners HealthCare, Personalized Medicine
The Personalized Medicine Conference is an annual two-day event co-hosted and presented by Partners HealthCare Personalized Medicine, Harvard Business School, and Harvard Medical School in association with the American Association for Cancer Research; American Medical Association; American Society for Human Genetics and Personalized Medicine Coalition. Widely considered the most prestigious event in the field, this conference attracts hundreds of national and international thought leaders across multiple disciplines as speakers, panelists, and attendees.
Registration opens at 7:00 a.m.
A continental breakfast will be available
8:00 a.m. – Welcome & Opening Remarks
Speakers
Raju Kucherlapati, Ph.D. Paul C. Cabot Professor of Genetics, Professor of Medicine, Harvard Medical School
AND
Scott T. Weiss, M.D., M.S.
Scientific Director, Partners Personalized Medicine
Associate Director, Channing Laboratory, Professor of Medicine
Professor of Medicine, Harvard Medical School
Greetings
Speaker
Ralph Snyderman, M.D. Chancellor Emeritas, Duke University
8:30 a.m. – Keynote Address
Speaker
To Be Announced
9:00 a.m. – Panel Discussion
Investments in Personalized Medicine
Opening Speaker and Moderator
Sue Siegel
CEO, GEVentures & healthymagination
Panelists
Sean George, Ph.D.
President, COO, and Co-Founder, Invitae
Mark Levin
Partner, Third Rock Ventures
Shawn Marcell
President and CEO, Metamark Genetics
Kimberly Popovits
Chairman of the Board, CEO and President, Genomic Health
10:15 a.m. – Networking Break
Networking break with refreshments.
11:00 a.m. – Keynote Speaker
Precision Medicine Initiative
Speaker
Paul Hudson
President, Astra Zeneca US
Executive Vice President, North America
11:30 a.m. – Keynote Speaker
To Be Announced
12:00 p.m. – Luncheon
A seated luncheon for all conference attendees
1:15 p.m. – Panel Discussion
Precision Medicine in Community Healthcare Settings
Opening Speaker & Moderator
Barbara McAneny, M.D.
CEO, New Mexico Oncology Hematology Consultants, Ltd.
Panelists
Lynn Dressler, Dr. P.H.
Director of Personalized Medicine, Fullerton Genetics Center, Mission Health
David Ledbetter, Ph.D.
Executive Vice President & Chief Scientific Officer, Geisinger Health System
John Niederhuber, M.D.
CEO, Inova Translational Medical Institute
2:30 p.m. – Networking Break
Networking break with refreshments.
3:00 p.m. – Conversation
Perspectives From Professional Societies
Opening Speaker & Moderator:
Cynthia Morton, Ph.D.
William Lambert Richardson Professor of OB/Gyn and
Reproductive Biology and Professor of Pathology, Harvard Medical School;
Director of Cytogenetics, Brigham and Women’s Hospital
Panelists
José Baselga, M.D., Ph.D.
Physician in Chief and Chief Medical Officer, Memorial Sloan Kettering Cancer Center;
President-Elect, American Association for Cancer Research
Richard Friedberg, M.D., Ph.D.
President-elect, College of American Pathologists
James Madara, M.D.
Executive Vice President and CEO, American Medical Association
4:00 p.m. – Panel Discussion
Personalized Medicine Around the World
Opening Speaker & Moderator:
Gary Palmer, M.D., J.D., MBA, MPH
Chief Medical Officer, NantHealth
Panelists
Vijay Chandru, Ph.D.
Co-Founder, Chairman and CEO, Strand Life Sciences
Xishan Hao, M.D., FACS
Director, National Clinical Research Center for Cancer;
President, Chinese Anti-Cancer Association;
Hon. President, Tianjin Medical University;
Director, Tianjin Cancer Research Institute
Pierre Meulin, Ph.D.
President and CEO, Genome Canada
Jack Wang
CEO, Biomobie Regenerative Medicine Co., Ltd.
5:00 p.m. – Reception
All conference attendees are invited to join a reception in Elements Cafe.
Registration opens and a continental breakfast is available.
8:00 a.m. – Opening
8:15 a.m. Welcome and Introduction
Scott T. Weiss, M.D., M.S.
Scientific Director, Partners HealthCare Personalized Medicine
Associate Director, Channing Laboratory
Professor of Medicine, Harvard Medical School
8:30 a.m. Harvard Business School Case Study
Building a Personalized Medicine Company: What does it take?
Robert Higgins
Senior Lecturer of Business Administration, Harvard Business School;
Founder and GP, Causeway Media Partners
9:30 a.m. Keynote Speaker
Looking at Personalized Medicine from a Pharmaceutical Perspective
Speaker
Mikael Dolsten, M.D., Ph.D.
President, Worldwide Research and Development, Pfizer
10:00 a.m. – Networking Break
Networking break with refreshments!
10:30 a.m. – Personalized Medicine Coalition Award
Presentation of the 11th Annual Personalized Medicine Coalition Award
for Leadership in Personalized Medicine
Award Recipient
To Be Announced
11:00 a.m. – Panel Discussion
Innovators in Personalized Medicine
Opening Speaker & Moderator
Michael Pellini, M.D., M.B.A.
CEO, Foundation Medicine
Panelists
Christine Cournoyer
CEO, N-for-One, Inc.
Michael Reitermann
CEO, Siemens Healthcare Diagnostics
Member of the Executive Management, Siemens
George Yancopoulos, M.D.
CEO and President, Regeneron
12:00 noon – Keynote Speaker
Genomics England
Speaker
Sir John Chisholm
Executive Chair, Genomics England
12:30 p.m. – Bag Lunch
Bag lunch with open seating for all conference attendees
1:15 p.m. – Panel Discussion
Novel Efforts in Personalized Medicine
Opening Speaker & Moderator:
Deborah Dunsire, M.D.
President and CEO, Forum Pharmaceuticals
Panelists
Roopom Banerjee
President and CEO, RainDance Technologies
L. Patrick James, M.D.
Chief Clinical Officer, Health Plans and Policy, Quest Diagnostics
Jonathan Sheldon, Ph.D.
Global Vice President, Oracle Health Sciences Translational Research Center, Oracle, Incorporated
2:15 p.m. – Panel Discussion
Precision Medicine Initiative in United States and Abroad
Opening Speaker & Moderator:
Kathy Hudson, Ph.D.
Director for Science, Outreach, and Policy at the
National Institutes of Health
Panelists
Hadi Abderrahim, M.D., Ph.D., M.B.A.
Managing Director, Qatar Biobank
Elizabeth Karlson, M.D.
Co-Investigator, Partners HealthCare Biobank, Partners HealthCare Personalized Medicine;
Associate Professor of Medicine, Harvard Medical School
Nahid Turan, Ph.D.
PI, National Institute of General Medical Sciences Human Genetic Cell Repository, Coriell Institute
3:15 p.m. – Closing Remarks
Speaker
Raju Kucherlapati, Ph.D.
Paul C. Cabot Professor of Genetics, Professor of Medicine
Harvard Medical School
Researchers Identify Brain Abnormalities in People with Schizophrenia
Reporter: Aviva Lev-Ari, PhD, RN
Structural brain abnormalities in patients with schizophrenia, providing insight into how the condition may develop and respond to treatment, have been identified in an internationally collaborative study led by a Georgia State University scientist.
Scientists at more than a dozen locations across the United States and Europe analyzed brain MRI scans from 2,028 schizophrenia patients and 2,540 healthy controls, assessed with standardized methods at 15 centers worldwide. The findings, published in Molecular Psychiatry, help further the understanding of the mental disorder.
The work was the outcome of the Enhancing Neuroimaging Genetics through Meta-Analysis project (ENIGMA), from the Schizophrenia Working Group that is co-chaired by Jessica Turner, associate professor of psychology and neuroscience at Georgia State, and Theo van Erp, assistant research professor in psychiatry at the University of California, Irvine.
“This is the largest structural brain meta-analysis to date in schizophrenia, and specifically, it is not a meta-analysis pulled only from the literature,” said Turner. “Investigators dug into their desk drawers, including unpublished data to participate in these analyses. Everyone performed the same analyses using the same statistical models, and we combined the results. We then identified brain regions that differentiated patients from controls and ranked them according to their effect sizes.”
The team found individuals with schizophrenia have smaller volume in the hippocampus, amygdala, thalamus, nucleus accumbens and intracranial space than controls, and larger pallidum and ventricle volumes. The study validates collaborative data analyses can be used across brain phenotypes and disorders, and encourages analysis and data-sharing efforts to further understanding of severe mental illness.
The ENIGMA collaborations include working groups for other disorders such as bipolar disorder, attention deficit, major depression, autism and addictions, who are all doing these same analyses. The next step in this research is to compare the effects across disorders, to identify which brain region is the most affected in which disorder, and to determine the effects of age, medication, environment and symptom profiles across these disorders.
“There’s the increased possibility, not just because of the massive datasets, but also because of the collaborative brain power being applied here from around the world, that we will find something real and reliable that will change how we think about these disorders and what we can do about them,” Turner said.
Scientists have developed a new technique allowing the bioprinting at ambient temperatures of a strong paste similar to ‘play dough’ capable of incorporating protein-releasing microspheres.
The scientists demonstrated that the bioprinted material, in the form of a micro-particle paste capable of being injected via a syringe, could sustain stresses and strains similar to cancellous bone – the ‘spongy’ bone tissue typically found at the end of long bones.
This work, published today (3 July 2015) in the journal Biofabrication, suggests that bioprinting at ambient temperatures is a viable route to the production of materials for bone repair which would allow the inclusion of cells and proteins capable of accelerating the healing of large fractures.
“Bioprinting is a hot research area in tissue engineering,” explains Dr Jing Yang, of the University of Nottingham, a lead author on the paper. “However it usually requires a printing environment that isn’t compatible with living cells – and those materials that are compatible with living cells usually don’t have sufficient mechanical properties for certain applications.”
“Initially we’re targeting the clinical application of this material as injectable bone defect filler,” continues Dr Yang, “but we’ve postulated that its properties would make it highly suitable for use as a scaffold to reconstruct larger shapes, which could help with more complicated reconstructions – such as nasal reconstruction.”
Typically, bioprinting techniques involve high temperature processes, or the application of ultraviolet light or organic solvents, all of which prevent the incorporation of cells and therapeutic biomolecules during the fabrication process.
This technique involved blending poly(L-lactic-co-glycolic acid) and polyethylene glycol with carrier fluids at room temperature to form a micro-particulate extrudable paste that can be formed to desired shapes. These pastes were incubated at 37 °C to form porous solid constructs. The next steps of the process will be to apply this process in a clinical application.
Semen parameters are typically used to diagnose male infertility and specify clinical interventions. In idiopathic infertile couples, an unknown male factor could be the cause of infertility even when the semen parameters are normal. Next-generation sequencing of spermatozoal RNAs can provide an objective measure of the paternal contribution and may help guide the care of these couples. We assessed spermatozoal RNAs from 96 couples presenting with idiopathic infertility and identified the final reproductive outcome and sperm RNA elements (SREs) reflective of fecundity status. The absence of required SREs reduced the probability of achieving live birth by timed intercourse or intrauterine insemination from 73 to 27%. However, the absence of these same SREs does not appear to be critical when using assisted reproductive technologies such as in vitro fertilization with or without intracytoplasmic sperm injection. About 30% of the idiopathic infertile couples presented an incomplete set of required SREs, suggesting a male component as the cause of their infertility. Conversely, analysis of couples that failed to achieve a live birth despite presenting with a complete set of SREs suggested that a female factor may have been involved, and this was confirmed by their diagnosis. The data in this study suggest that SRE analysis has the potential to predict the individual success rate of different fertility treatments and reduce the time to achieve live birth.
The authors said that nine of the 648 SREs corresponded to intergenic regions, while 12 corresponded to sperm-specific intronic elements, and 42 were within 24 different non-coding RNAs, “all of which are likely regulatory.” They added that most of the SREs, 585, were within exonic regions of 262 different genes. Of those genes, 40 percent were “ontologically classified as associated with spermatogenesis, sperm physiology, fertility, and early embryogenesis before implantation.”
They noted that approximately 13 percent of all couples of reproductive age have problems of infertility, and while physical examination of men can reveal lowered sperm count, shape, or motility, in some cases there’s no apparent cause of infertility. RNA sequencing could help resolve those unknown cases.
The scientists found that fertile men carried a complete set of the sperm RNA elements; however, most of the infertile men did not. Men whose sperm lacked the full transcriptional profile were less successful at impregnating their partner. Men with the whole package of required SREs were able to achieve live births without the aid of reproductive assistance in 22 of 30 cases, but men with at least one missing required SRE were only able to do so in 3 of 11 cases.
The authors acknowledged that their biomarkers need validation in a larger, prospective, blinded, controlled study, which would “clarify which are essential for diagnosis and may contribute to the birth of a healthy child.” But they noted the decreasing cost of NGS and said RNA sequencing could produce a clinical benefit.
RNA sequencing could help identify the most effective fertility treatments for couples struggling to conceive. In the study, 14 men with at least one critical SRE absent from their sperm RNA profile attempted to conceive with their partner using assisted reproductive technologies such as in vitro fertilization. Of those, 11 were successful.
The authors noted that women are more likely to bear the burden of extensive evaluation in the case of failure and that non-invasive RNA sequencing of sperm might reduce risks associated with that evaluation. “This may permit an informed choice of a treatment paradigm that would help the female partner avoid undergoing invasive procedures such as egg collection,” the authors wrote.
Severe IBS Symptoms: Clinical Trial results on delivery of peppermint oil to the small intestine through a system (IBgard®)
Reporter: Aviva Lev-Ari, PhD, RN
Written by Freelance medical writer Walter Alexander
IBgard® Delivery of Mint Oil Effective in Patients with Severe IBS Symptoms
WASHINGTON DC, May 17, 2015—In IBSREST™ (Irritable Bowel Syndrome Reduction Evaluation and Safety Trial), sustained delivery of peppermint oil to the small intestine through a system (IBgard®) that minimizes release in the stomach and colon, resulted in significant reductions in severe or unbearable irritable bowel syndrome (IBS) symptoms over four weeks as compared with placebo. Other formulations of mint oil tend to remain in the stomach or pass all the way to the colon, potentially causing cause heartburn, nausea and anal burning.
About 25 percent of IBS patients, said Brooks D. Cash, MD, professor of medicine at University of South Alabama, Mobile, AB, at his poster at the Digestive Disease Week 2015 annual meeting, describe their symptoms as severe. Dr. Cash noted that derangements in gut immunity, microbiota, sensation, motility, secretion, and digestion have all been proposed as possible etiologies of IBS. L-menthol, the main constituent of peppermint oil, has anti-spasmodic, anti-carminative, topical analgesic, anti-infective and 5-HT3 receptor antagonism properties. IBSREST™ evaluated the efficacy and tolerability of IBgard, an ultra-purified peppermint oil, in a population enriched with severe/unbearable symptoms.High symptom severity reflects higher intensity and frequency of individual symptoms, leading in IBS patients to lower quality of life, work disruptions, and frequent physician visits (more than one per month). Dr. Cash noted also that among treatments for the three IBS subtypes (M:mixed/alternating; D: diarrhea; C:constipation), approved products are lacking for IBS-M and options for IBS-D are limited. “Our study was selective for patients with severe symptoms because that is where the unmet need is,” Dr. Cash said in an interview. He pointed out further that in studies of other treatments, more severe patients tend to respond less well. The targeted delivery of mint oil in solid microspheres to the small intestine was expected to address the unmet need, according to Dr. Cash.
The randomized, placebo-controlled trial included 72 patients (mean age ~41 years) who met Rome III criteria for IBS-D or IBS-M, had average daily IBS-related abdominal pain of ≥4 on a 0-10 scale, and a Total IBS Symptom Score (TISS) of ≥2 on a 0-4 scale. The TISS scale encompasses 8 symptoms (abdominal pain or discomfort, bloating or distention, pain at evacuation, urgency, constipation, diarrhea, mucus or gas and sense of incomplete evacuation). After a 3-week period for symptom severity assessment and prohibited medication washout, subjects were randomly allocated to receive IBgard 180 mg TID or identical placebo for 4 weeks.
After 28 days, the reduction from baseline in number of severe and unbearable symptoms (average of frequency and intensity ≥3) was -66 percent for IBgardas compared with -42 percent with placebo (P=0.0212). The reduction in patient-reported severe or unbearable abdominal pain intensity at 28 days was -79.4 percent for IBgard and-40.5 percent for placebo (P=0.0009). Trends in percent reduction in severe or unbearable individual intensity scores were favorable for IBgard across all 8 severe/unbearable parameters (from 71 percent to 90 percent), more than at 24 hour assessment (30 percent to 47 percent).“Severe symptom patients responded as well as those with less severe symptom patients. That’s very reassuring,” Dr. Cash said.
IBgard was well tolerated and safe. No patients withdrew from the study on account of treatment emergent adverse events.
Dr. Cash concluded, “Over 4 weeks, IBgard was effective at improving the composite IBS symptom score, and the individual IBS symptom components, including severe or unbearable abdominal pain intensity at 4 weeks.”
Obesity associated with reduced posterior LA endocardial voltage and infiltration of contiguous posterior LA muscle by epicardial fat, representing a unique substrate for atrial fibrillation (AF)
Reporter: Aviva Lev-Ari, PhD, RN
Original Investigation|July 2015
Electrophysiological, Electroanatomical, and Structural Remodeling of the Atria as Consequences of Sustained Obesity
Rajiv Mahajan, MD, PhD∗; Dennis H. Lau, MBBS, PhD∗; Anthony G. Brooks, PhD∗; Nicholas J. Shipp, PhD∗; Jim Manavis, PhD†; John P.M. Wood, D Phil‡; John W. Finnie, BVSc, PhD§; Chrishan S. Samuel, PhD‖; Simon G. Royce, PhD‖; Darragh J. Twomey, MBBS∗; Shivshanker Thanigaimani, PhD∗; Jonathan M. Kalman, MBBS, PhD¶; Prashanthan Sanders, MBBS, PhD∗
Background Obesity and atrial fibrillation (AF) are public health issues with significant consequences.
Objectives This study sought to delineate the development of global electrophysiological and structural substrate for AF in sustained obesity.
Methods Ten sheep fed ad libitum calorie-dense diet to induce obesity over 36 weeks were maintained in this state for another 36 weeks; 10 lean sheep with carefully controlled weight served as controls. All sheep underwent electrophysiological and electroanatomic mapping; hemodynamic and imaging assessment (echocardiography and dual-energy x-ray absorptiometry); and histology and molecular evaluation. Evaluation included atrial voltage, conduction velocity (CV), and refractoriness (7 sites, 2 cycle lengths), vulnerability for AF, fatty infiltration, atrial fibrosis, and atrial transforming growth factor (TGF)-β1 expression.
Results Compared with age-matched controls, chronically obese sheep demonstrated greater total body fat (p < 0.001); LA volume (p < 0.001); LA pressure (p < 0.001), and PA pressures (p < 0.001); reduced atrial CV (LA p < 0.001) with increased conduction heterogeneity (p < 0.001); increased fractionated electrograms (p < 0.001); decreased posterior LA voltage (p < 0.001) and increased voltage heterogeneity (p < 0.001); no change in the effective refractory period (ERP) (p > 0.8) or ERP heterogeneity (p > 0.3). Obesity was associated with more episodes (p = 0.02), prolongation (p = 0.01), and greater cumulative duration (p = 0.02) of AF. Epicardial fat infiltrated the posterior LA in the obese group (p < 0.001), consistent with reduced endocardial voltage in this region. Atrial fibrosis (p = 0.03) and TGF-β1 protein (p = 0.002) were increased in the obese group.
Conclusions Sustained obesity results in global biatrial endocardial remodeling characterized by LA enlargement, conduction abnormalities, fractionated electrograms, increased profibrotic TGF-β1 expression, interstitial atrial fibrosis, and increased propensity for AF. Obesity was associated with reduced posterior LA endocardial voltage and infiltration of contiguous posterior LA muscle by epicardial fat, representing a unique substrate for AF.
‘Mammogram for the heart’ can predict heart attack by Dr. James Min, Director of the Dalio Institute of Cardiovascular Imaging at New York-Presbyterian Hospital and Weill Cornell Medical College
Reporter: Aviva Lev-Ari, PhD, RN
‘Mammogram for the heart’ can predict heart attack: Study
A team led by researchers at Weill Cornell Medical College has found that a non-invasive scan can accurately predict the likelihood of a heart attack or death over a 15-year period, even if the patients are not showing symptoms of heart disease.
Lead researcher Dr. James Min, director of the Dalio Institute of Cardiovascular Imaging at New York-Presbyterian Hospital and Weill Cornell Medical College, called the scan — a coronary artery calcification test, which measures calcified plaque buildup in the arteries — a “mammogram for the heart”.
Sequencing yourself! and Learn more on Genome Sequencing on Tuesday, November 17, 2015 from 8am-5pm in the Joseph B. Martin Conference Center of the Harvard New Research Building at Harvard Medical School, 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)
Sequencing yourself! and Learn more on Genome Sequencing on Tuesday, November 17, 2015 from 8am-5pm in the Joseph B. Martin Conference Center of the Harvard New Research Building at Harvard Medical School
Reporter: Aviva Lev-Ari, PhD, RN
Become one of the first humans to have your entire genome sequenced, while participating in an interactive set of presentations and debates about the promise and limitations of genome sequencing from some of the world’s leading genomic scientists.
The UYG Boston is an invitation-only, interactive symposium in which approximately 60 leaders from the Boston business and academic communities will have the opportunity to undergo whole genome sequencing, and to explore their own genome as part of an all-day educational conference with exciting presentations, debates and comments from some of the most thought-provoking leaders in the field of sequencing, informatics and genomic medicine.
Co-sponsors:
Brigham Genome Medicine, Brigham and Women’s Hospital
Partners Personalized Medicine and Laboratory for Molecular Medicine
Precision Medicine Program at Brigham and Women’s Hospital
Department of Pathology at Brigham and Women’s Hospital
Analytic and Translational Genetics Unit, Massachusetts General Hospital
The Broad Institute of Harvard and MIT
Department of Pathology at Massachusetts General Hospital
Division of Genetics, Department of Medicine, Brigham and Women’s Hospital
Module 1: Understanding the Basics of Genetics and Genomics
Moderator: __________________________________
8:30 am -9:55 am
(10) Robert Green: Welcome and Introductory Remarks
(20) Stacey Gabriel: Technical Overview of Sequencing, Alignment and Variant Calling
(20) Heidi Rehm: Variant Classification and Lab Reporting: the Good, the Bad and the VUS
(20) Daniel MacArthur: Using Large Datasets to Explore Penetrance
(15) Questions and Discussion
Coffee Break
9:55 am – 10:10 am
Module 2: Sequencing and Informatics in Clinical Care
Moderator: __________________________________
10:10 am-11:30 noon
(20) Dick Maas: Sequencing in Undiagnosed Cases
(20) Kricket Seidman: Sequencing in the Care of Specific Diseases (Cardiomyopathy)
(20) Zak Kohane: Sequencing and Informatics
(20) Discussion
Luncheon: Understand Your Genome®
11:30 noon – 1:00 pm
Pechet Room
Lunch for those who have been sequenced or wish to learn to use the MyGenome web portal with the demo genome (seating is limited to 40 WGS attendees + 10 additional attendees):
(30) Erica Ramos: Clinical Whole Genome Sequencing in a Healthy Population
(30) Erica Ramos: MyGenome Web Portal Revealed
(30) Erica Ramos and Genetic Counselors: Holding and Exploring Your Own Genome
Lunch served separately for those who do not wish to explore MyGenome Web App
Module 3: Sequencing in Research: from Discovery to Patient Care
Moderator: __________________________________
1:00 pm – 2:40 pm
(10) Jeff Flier: Afternoon welcome and remarks
(20) Sek Kathiresan: Developing Medicines that Mimic Natural Genomic Successes
(20) Calum MacRae: Global Phenotyping and the Clinic of the Future
(10) Heidi Rehm: ClinGen and Matchmaker Exchange
(20) Robert Green: Clinical Outcomes Research in Sequencing
(20) Discussion
Module 4: Academic Medical Centers and Personalized/Precision Medicine
Moderator: __________________________________
2:40- 3:35
(15) Betsy Nabel: Direct-to Consumer Sequencing and the Academic Medical Center
(20) Jeff Golden: Precision Medicine, Regulation and Reimbursement
(20) Discussion
Afternoon Break
3:35-3:50
Module 5: Debate on the Benefits, Harms and Costs of Sequencing Health Individuals by Individual Speakers with the Entire Panel of Speakers and the Attendees
3:50-4:55
Five Minute Pro or Con by Each Speaker and Select Audience Members, Followed by Debate
“DNA Team” Captains: “There is Benefit” Jeff Golden/Jeff Flier
“RNA Team” Captains: “There is No Benefit” Sek Kathiresan/Betsy Nabel
Closing Remarks
4:55 – 5:00
(5) Robert Green
Wine and Cheese Reception for Speakers and Attendees
We are inviting you, as one of a small group of forward looking thought leaders, to attend an exciting educational and experiential event: the Boston “Understand your Genome” conference. This conference will take place the day before this year’s Partners Personalized Medicine Conference at Harvard Medical School and will have two components.
First, a panel of world-renowned speakers will discuss the current progress and promise of genomic medicine, and debate the controversial issues surrounding the sequencing of healthy individuals for prediction and prevention.
Second, the conference will provide you with the option to become one of the first people on the planet to have your whole genome sequenced at a CLIA facility where a report will be generated by a board certified molecular geneticist on 1,691 genes with well-established associations to 1,232 Mendelian conditions, and 11 genes associated with responses to 16 different medications.
This conference is a non-profit educational event that is sponsored by the Division of Genetics, in the Department of Medicine at Brigham and Women’s Hospital with co-sponsorship by Partners Personalized Medicine and the Laboratory for Molecular Medicine, the Precision Medicine Program at Brigham and Women’s Hospital, the Department of Pathology at Brigham and Women’s Hospital, the Analytic and Translational Genetics Unit at Massachusetts General Hospital, the Department of Pathology at Massachusetts General Hospital and the Broad Institute. Together, we have assembled a remarkable panel of speakers for the first component of the program.
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