NHGRI

July 8, 2021

Genetics of hydrocephalus

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.

By Leigh MacMillan
From left, Scott Borinstein, MD, PhD, Jonathan Mosley, MD, PhD, and Sara Van Driest, MD, PhD, found that some healthy African Americans are having bone marrow biopsies they don’t need. (photo by Erin O. Smith)
June 28, 2021

Gene variant linked to unnecessary bone marrow biopsies in African Americans

A gene variant that lowers white blood cell levels and is common in individuals with African ancestry contributes to unnecessary bone marrow biopsies, according to a study published June 28 in JAMA Internal Medicine.

By Leigh MacMillan
April 29, 2021

Genetic ancestry and hypertension risk

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.

By Bill Snyder
January 7, 2021

Functional seizures associated with stroke, psychiatric disorders in electronic health records study

In a large-scale study of electronic health records, Vanderbilt University Medical Center investigators have determined the prevalence of functional seizures and characterized comorbidities associated with them.

By Leigh MacMillan
October 22, 2020

New tool to probe genetic mechanisms of disease

Vanderbilt Genetics Institute investigators have added a new method to the computational genetics toolbox. Their approach, described in the journal Nature Genetics, integrates vast genomics datasets to predict gene expression and facilitate discovery of genetic mechanisms underlying human diseases.

By Leigh MacMillan
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
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
February 6, 2020

New tool probes gene regulation

Vanderbilt biochemists got unexpected results when they used their new approach to explore the role of DNA methylation in gene regulation.
By Leigh MacMillan
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 4, 2019

How to fake a medical record

Simulated electronic health records could avoid patient privacy risks and help speed discovery.
By Paul Govern
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
April 24, 2019

Study merges big data and zebrafish biology to reveal mechanisms of human disease

In a series of studies that volleyed between large databases and research in zebrafish, Vanderbilt investigators have discovered a link between vascular biology and eye disease.
By Leigh MacMillan
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