Genetics & Genomics

September 10, 2020

Award supports integration of genomic data, electronic health records

Eric Gamazon, PhD, assistant professor of Medicine, has been awarded a $1.5 million grant from the National Human Genome Research Institute, part of the National Institutes of Health (NIH), to develop novel computational tools that integrate functional genomic data and electronic health records.

By Leigh MacMillan
September 7, 2020

Possible key to COVID-19 infectivity

New findings demonstrate how genetic variations in the receptor that binds SARS-CoV-2 impact virus recognition and infectivity and offer insights to COVID-19 susceptibility and treatment.

By Sarah E. Glass
August 10, 2020

A step toward cancer prevention

A computational technique that combines the effect of multiple genomic variants has the potential to identify high-risk individuals for cancer prevention.

By Bill Snyder
July 1, 2020

VUMC-led network to focus on polygenic risk for common diseases

With the aid of a $75 million, five-year grant renewal, the Electronic Medical Records and Genomics Network (eMERGE) will venture beyond its current focus on monogenic disease to scoring research participants’ relative risk for complex heritable diseases such as cardiovascular disease, chronic kidney disease and type 2 diabetes.

By Paul Govern
June 12, 2020

Robotic technology speeds arrhythmia gene classification

Vanderbilt University Medical Center investigators have used high-throughput robotic technology to rapidly study and classify variations in a gene linked to heart rhythm disorders and cardiac conditions.

By Leigh MacMillan
April 30, 2020

EHRs, biobanks and Mendelian diseases

Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis.

By Leigh MacMillan
April 30, 2020

PREDICT program expands, opens new Genomics Clinic

A new clinic opening at Vanderbilt University Medical Center will help doctors and patients choose the best drugs for their medical conditions based on the patients’ unique genetic makeup.
By Bill Snyder
April 23, 2020

Polygenic scores identify those at high cancer risk

A team of Vanderbilt researchers constructed polygenic risk scores (PRS) based on genomic variants associated with eight common cancers and concluded they could potentially be used for personalized risk assessments.
By Tom Wilemon
February 27, 2020

Study finds certain genetic test not useful in predicting heart disease risk

A Polygenic Risk Score — a genetic assessment that doctors have hoped could predict coronary heart disease (CHD) in patients — has been found not to be a useful predictive biomarker for disease risk.
By Matt Batcheldor
January 13, 2020

Vanderbilt-led team discovers new genetic disease and defines underlying mechanism

An international research team has discovered a new genetic syndrome caused by mutation of a single gene and named it CATIFA, an acronym for its core symptoms.
By Leigh MacMillan
November 6, 2019

Study finds acid reducers may pose risk for children

The use of acid reducers among children is on the rise and so are potential side effects, which is sparking concern according to a recent study.
By Jessica Pasley
September 25, 2019

Study shines light on architecture of kidney disease

A study of 280,000 U.S. veterans, including 56,000 African Americans, has identified in greater detail than ever before the genetic architecture of kidney function and chronic kidney disease (CKD), according to researchers at Vanderbilt University Medical Center and their colleagues.
By Bill Snyder
September 19, 2019

Gamazon receives NIH Genomic Innovator Award

VUMC's Eric Gamazon is one of only six investigators to receive an inaugural Genomic Innovator Award from the National Human Genome Research Institute, part of the NIH.
By Leigh MacMillan
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