Genetics & Genomics

GeneMAP discovery platform will help define functions for ‘orphan’ metabolic proteins 

The combination of genomics and metabolism identified a long-sought mitochondrial choline transporter.

Sarah Tishkoff, PhD

Sarah Tishkoff named to receive the 2024 Vanderbilt Prize in Biomedical Science

Sarah Tishkoff, PhD, and her collaborators have created one of the world’s largest databases of African diversity derived from genetic samples from more than 9,000 people representing more than 200 diverse ethnic groups.

Gene variant may underlie diabetes disparities: study

The study was the largest ancestry-stratified, genetic estimation of the heritability of diabetic retinopathy conducted to date and included an unprecedented number of individuals of non-Hispanic African ancestry — more than 46,000.

(iStock)

Study of messenger RNA regulatory mechanism reveals cancer risk genes

The Vanderbilt study used RNA-sequencing data generated in multiple normal tissues, along with matched genotype data from the Genotype-Tissue Expression Project as well as large-scale genomic data for cancers of the breast, ovary, prostate, colorectum, lung and pancreas.

Graduate student Taralynn Mack, left, pipettes a sample while Alexander Bick, MD, graduate student Hannah Poisner, and Celestine Wanjalla, MD, PhD, look on.

Research raises hope for treating potentially lethal blood condition

Roughly 1 in 10 people over age 70 will develop CHIP, an explosive, clonal growth of abnormal blood cells that increases risk of blood cancers and death from cardiovascular, lung and liver disease.

Photo caption: Jonathan Mosley, MD, PhD, left, Scott Borinstein, MD, PhD, John Shelley, and Vivian Kawai, MD, MPH, are studying how genetic variation not related to disease affects clinical decisions. (photo by Susan Urmy)

Genetic variation associated with low white blood cell count impacts clinical decisions

People whose white blood cell levels are near the edge of the “healthy” reference range will hit a clinical decision point that has consequences such as diagnostic procedures and altered treatments.

1 2 3 11