Genetics & Genomics

Ann Walker, Research Assistant III, spins blood samples on a carousel prior to DNA extraction.
July 18, 2023

Alliance for Genomic Discovery FAQs

Here are frequently asked questions about Vanderbilt University Medical Center’s Alliance for Genomic Discovery.

By VUMC News and Communications
July 17, 2023

Alzheimer’s genetic risk tracked across sex, race

A Vanderbilt study of genetic risks for cognitive impairment later in life uses data from 32,426 research participants ages 60 and older to elaborate these risks across sex and across the intersection of sex and race.

By Paul Govern
July 14, 2023

Study uses statistical and population-based methods to understand comorbidities of developmental language disorder

A recent Vanderbilt study is one of the first to use statistical and population-based methods to understand comorbidities associated with developmental language disorder at a population level.

By Danny Bonvissuto
June 22, 2023

Mosaicism and genetic disease

Genetic mosaicism — when the body’s cells do not all have the same genetic makeup — could generate variants previously thought to be spontaneous in genetic disease, and detecting parental mosaicism could clarify recurrence risk for future children.

By Leigh MacMillan
May 9, 2023

Study finds genetic screening of adults would be cost-effective

A Vanderbilt analysis of population genetic testing concludes with a recommendation to U.S. health policymakers to adopt routine testing of adults ages 40 and under for three genetic conditions posing high risk of life-threatening illness.

By Paul Govern
April 20, 2023

Genetics and chronic pain

Polygenic risk scores — scores that reflect the influence of common genetic variants — could be used to predict the likelihood of developing chronic overlapping pain conditions and guide biomarker and targeted prevention efforts.

By Bill Snyder
March 16, 2023

Study evaluates polygenic risk score for prostate cancer risk prediction

A Vanderbilt study found that prostate cancer polygenic risk score has limited utility for enhancing prostate cancer screening.
By Leigh MacMillan
February 16, 2023

Breast cancer genetics: new insights

Largest genetic study of breast cancer to date identifies 222 genetic risk loci, 137 genes and multiple signaling pathways associated with risk, providing important new insights.
By Leigh MacMillan
January 5, 2023

New approach outperforms existing cancer susceptibility models

A new approach for conducting gene-based analyses for cancer susceptibility created at Vanderbilt outperforms existing models.
By Tom Wilemon
December 15, 2022

Reduced kidney function may cause cardiovascular disease: study

An international team of investigators has found that mild to moderate reduction in kidney function may cause cardiovascular disease, even in people without symptoms of heart disease or diabetes.
By Bill Snyder
November 8, 2022

Alzheimer’s risk factor and cognition

Vanderbilt researchers found that a protein with roles in innate immunity worsens memory at baseline in carriers of APOE-e4, the strongest genetic risk factor for Alzheimer’s disease, further implicating neuroinflammation in cognitive decline.
By Leigh MacMillan
October 13, 2022

Study to search EHR for undiagnosed genetic diseases

A team at Vanderbilt University Medical Center will explore computational solutions to help address the problem of missed or delayed diagnosis for patients with rare genetic diseases.
By Paul Govern
October 6, 2022

Gene tied to childhood epilepsy

Data drawn from four unrelated patients with a childhood epilepsy syndrome — and from in vitro and in vivo studies — link novel variants in a GABA transporter gene to seizure activity, Vanderbilt researchers reported.
By Paul Govern
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