Genetics & Genomics

Fluid build-up in the brain — hydrocephalus — increases pressure and risk for brain damage; Vanderbilt researchers have now identified genes and signaling pathways associated with the condition.

Vanderbilt University Medical Center will participate in a new federal initiative aimed at improving the use of polygenic risk scores (PRS) to predict complex diseases in diverse populations.

Patients who, perhaps unbeknownst to their health care providers, are in need of genetic testing for rare undiagnosed diseases can be identified en masse based on routine information in electronic health records (EHRs), a research team reported June 3 in the journal Nature Medicine.

A 9-year-old patient of Monroe Carell Jr. Children’s Hospital at Vanderbilt is the first in the world to receive an investigational gene editing therapy for Methylmalonic Acidemia (MMA), a rare genetic disorder diagnosed at birth.

People with a high polygenic risk score for colorectal cancer could benefit more at preventing the disease by leading healthy lifestyles than those at lower genetic risk, according to a study by Vanderbilt researchers published in the April issue of The American Journal of Clinical Nutrition.

Racial disparities in hypertension risk are due in part to genetic differences between ancestries, Vanderbilt investigators find in a study of participants in the Million Veteran Program.

Dan Roden, MD, Senior Vice President for Personalized Medicine at Vanderbilt University Medical Center, received the Oscar B. Hunter Career Award in Therapeutics last week at the virtual annual meeting of the American Society for Clinical Pharmacology and Therapeutics.