Penn Medicine Awarded $6 Million to Advance Understanding of Human Genome Function in Health and Disease

The National Institutes of Health (NIH) has selected Penn Medicine as one of 25 award recipients across 30 sites in the United States to serve as Impact of Genomic Variation on Function (IGVF) investigators, with the goal of better understanding how genetic differences impact how human genes function, and how these variations influence human health and disease.

Social support reduces genetic risk factors that can lead to alcohol use problems

A new study from the Arizona State University Department of Psychology shows that the combination of genetic predisposition to alcohol use disorders and personality type can lead to problematic drinking behaviors. Having strong social support from friends was identified as protective against excessive drinking. The work was published in the Journal of Abnormal Psychology.

Schizophrenia Study Suggests Advanced Genetic Scorecard Cannot Predict a Patient’s Fate

Researchers at the Icahn School of Medicine at Mount Sinai found that a tool commonly used in research for evaluating a person’s genetic risk for a disease, called a polygenic risk score, was no better at predicting the outcome of a schizophrenia patient’s disease over time than written reports. The results raise important questions about the use of polygenic risk scores in real-world, clinical situations, and also suggest that a doctor’s written report may be an untapped source of predictive information.

Exercise May Not Offset Genetic Predisposition for Low Exercise Capacity, Impaired Insulin Sensitivity

Article title: Genetically determined exercise capacity affects systemic glucose response to insulin in rats Authors: Michael Schwarzer, Annika Molis, Christina Schenkl, Andrea Schrepper, Steven L. Britton, Lauren Gerard Koch, Torsten Doenst From the authors: “In our model of [high capacity…

Children’s Hospital of Philadelphia Researchers Develop Tools to Measure Skeletal Muscle Function in Patients with Mitochondrial Disease

Researchers successfully developed and validated a new outcome measure to monitor disease severity and progression in patients with impaired skeletal muscle function caused by mitochondrial disease. This measure, named ‘Mitochondrial Myopathy-Composite Assessment Tool’ (‘MM-COAST’), is important to identify specific skeletal muscle and neurological problems in both children and adults with mitochondrial disease and may be used to measure response to treatment interventions in future clinical trials.

Mount Sinai researchers develop novel therapy that could be effective in many cancers

New York, NY (July 23, 2021) — Mount Sinai researchers have developed a therapeutic agent that shows high effectiveness in vitro at disrupting a biological pathway that helps cancer survive, according to a paper published in Cancer Discovery , a…

Toward one drug to treat all coronaviruses

Safe and effective vaccines offer hope for an end to the COVID-19 pandemic. However, the possible emergence of vaccine-resistant SARS-CoV-2 variants, as well as novel coronaviruses, make finding treatments that work against all coronaviruses as important as ever. Now, researchers…