By Gali Halevi, PhD, MLS
The Inaugural Medical Education/AIT Annual Retreat was organized to order to develop innovative products and services to Icahn School of Medicine at Mount Sinai (ISMMS) students and faculty. The retreat took place in an offsite location with15 Medical Education, Library, Instructional Design and IT leaders. Overall, the retreat proved to be a successful, fruitful, and exciting day. For 6 hours, participants exchanged ideas potential collaborations, debated feasibility, benefits and risks, and enjoyed sharing their expertise in different areas of medical education.
While enjoying an unofficial and relaxing setting, professional hierarchies disappeared and allowed participants to discuss ideas openly and creatively. Projects ranging from arts and humanities focused activities, to original research, to productivity and assessment systems were brought forth for discussion. At the end of the day, the group came up with 10 projects, each assigned with a leadership team that will be responsible for development and execution. In addition, the team came up with a cross-organizational communications plan to ensure maximum impact.
Now proved to be a successful endeavor, the retreat will become an annual event which will strengthen relationships and allow for innovation going forward.
Participants in the Inaugural MedEd/AIT Annual Retreat: Collaborate to Innovate.
By Barnaby Nicolas, MSIS
In our monthly “Article Spotlight” series, we’re showcasing achievements of Mount Sinai faculty and researchers using Altmetrics. This month, we’re looking at an article co-written by Dr. Pamela Sklar, MD, Professor, Psychiatry, Professor, Genetics & Genomics Sciences, Professor, Neuroscience, at Icahn School of Medicine at Mount Sinai. The article examines the use of shared data to provide insights into genetic-variant penetrance.
Citation: Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, et al. Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine. 2016;8(322):322ra9.
Article Summary: This study analyzes vast amounts of shared data—from the Exome Aggregation Consortium and the 23andMe database—to provide insights into genetic-variant penetrance and possible treatment approaches for a rare, fatal genetic prion disease. This study was analysis was conducted by a patient-turned-scientist joined with a large bioinformatics team.
BACKGROUND: No longer just buzz words, “patient empowerment” and “data sharing” are enabling breakthrough research on rare genetic diseases. Although more than 100,000 genetic variants are believed to drive disease in humans, little is known about penetrance—the probability that a mutation will actually cause disease in the carrier. This conundrum persists because small sample sizes breed imperfect alliance estimates between mutations and disease risk. More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. The researchers assessed the impact of variants in the prion protein gene (PRNP) on the risk of prion disease by analyzing 16,025 prion disease cases, 60,706 population control exomes, and 531,575 individuals genotyped by 23andMe Inc. They found that missense variants in PRNP previously reported to be pathogenic are at least 30 times more common in the population than expected on the basis of genetic prion disease prevalence. Although some of this excess can be attributed to benign variants falsely assigned as pathogenic, other variants have genuine effects on disease susceptibility but confer lifetime risks ranging from <0.1 to ~100%. We also show that truncating variants in PRNP have position-dependent effects, with true loss-of-function alleles found in healthy older individuals, a finding that supports the safety of therapeutic suppression of prion protein expression.
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Dr. Sklar’s profile