Genetics & Genomics

October 31, 2023

Polygenic “scores” may improve cancer screening

Accounting for genetic variability in biomarkers not associated with cancer risk could avoid unnecessary diagnostic procedures, Vanderbilt researchers found.

By Bill Snyder
October 5, 2023

Kidney disease gene also has a protective mutation

African Americans have long been known to be at increased risk of kidney disease due to a dangerous genetic mutation that creates a hole in the kidney cells, but Vanderbilt researchers have now discovered a protective genetic mutation that covers the hole to eliminate the risk.

By Craig Boerner
August 31, 2023

New reference tool supports replication of DNA biobank studies

Vanderbilt researchers created a phenotype-genotype reference map to assess data quality in DNA biobanks.

By Paul Govern
July 26, 2023

International workgroup of geneticists issues CHEK2 guidelines

International workgroup issues additional guidance on how to manage patients who carry inherited CHEK2 gene mutations that put them at a higher risk for cancer.

By Tom Wilemon
July 20, 2023

Predicting gene expression may speed discovery: study

Researchers at Vanderbilt University Medical Center and the University of Cambridge have developed a method of or predicting gene expression in hard-to-access tissues like the brain from more accessible tissues, including whole blood.

By Bill Snyder
July 18, 2023

The Alliance for Genomic Discovery announces founding biopharma members: AbbVie, Amgen, AstraZeneca, Bayer and Merck

Illumina Inc., in collaboration with Nashville Biosciences LLC, a leading clinical and genomic data company and wholly owned subsidiary of Vanderbilt University Medical Center, have announced the five founding new members of the Alliance for Genomic Discovery.

By VUMC News and Communications
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
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
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