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Knockdown and Replace: A Gene Therapy Twofer to Treat Blindness
August 20, 2018
New findings from a team led by University of Pennsylvania vision scientists, who have in the past taken gene therapies into clinical trials, are proving successful, this time treating a form of retinitis pigmentosa, a disease that progressively robs people of their night and peripheral vision before blindness develops.
Genome Editing Reduces Cholesterol in Large Animal Model, Laying the Groundwork for In-Human Trials
July 09, 2018
Using genome editing to inactivate a protein called PCSK9 effectively reduces cholesterol levels in rhesus macaques, a species of monkey, according to researchers from the Perelman School of Medicine at the University of Pennsylvania.
Penn Medicine Biochemist Receives Major Award for Research on Epigenetic Protein Modifications via Mass Spectrometry
June 15, 2018
Benjamin A.Garcia, PhD, an expert in quantitative proteomics and Presidential Professor of Biochemistry and Biophysics in the Perelman School of Medicine at the University of Pennsylvania, has been awarded the Biemann Medal by the American Society for Mass Spectrometry (ASMS).
Penn Medicine Human Geneticist Receives National Award for Pioneering Marfan Research
May 30, 2018
Reed Pyeritz, MD, PhD, the William Smilow Professor in the Division of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania, has been given the 2018 Hero with Heart Award by the Marfan Foundation.
Precision Medicine Access to Real time Genetic Testing
March 10, 2018
Today, in a late-breaking featured clinical research session at the American College of Cardiology Scientific Sessions 2018, researchers from Penn Medicine present first-of-its-kind data on the impact of real-time CYP2C19 genotype results when prescribing antiplatelet drugs in the clinic.
Collaborative Effort Powers Penns Global Castleman Disease Patient Registry
March 02, 2018
The international registry, which opened enrollment in late 2016, recently surpassed its first-year goal of 100 patients, with 120 Castleman Disease patients enrolled. Powered by Pulse’s system, the ACCELERATE Natural History Registry is enrolling patients from around the world.
Penn Medicine Science Educator is Co-Recipient of 2018 Elizabeth W. Jones Award for Excellence in Education from Genetics Society of America
February 09, 2018
Jamie Shuda, EdD, a prominent K-12 educator and researcher at Penn Medicine, has been named co-recipient of the 2018 Elizabeth W. Jones Award for Excellence by the Genetics Society of America (GSA) for “extraordinary contributions to genetics education.”
Penn Study on Super-silenced DNA Hints at New Ways to Reprogram Cells
January 05, 2018
Newly described stretches of super-silenced DNA reveal a fresh approach to reprogram cell identity to use in regenerative medicine studies and one day in the clinic, according to a study in Molecular Cell last week by investigators from the Perelman School of Medicine at the University of Pennsylvania.
3-D Packaging of DNA Regulates Cell Identity
October 12, 2017
A new study from the Perelman School of Medicine at the University of Pennsylvania suggests that the ability of a stem cell to differentiate into cardiac muscle (and by extension other cell types) depends on what portions of the genome are available for activation, which is controlled by the location of DNA in a cell’s nucleus.
Deciphering Biological Meaning from an Atlas of Gene Expression Across 42 Tissue Types
October 11, 2017
Finding new clues about the molecular origins of disease is the goal for a comprehensive atlas of variation in gene expression published this week in Nature and Nature Genetics.
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