NHGRI Archives
Genetics of hydrocephalus
Jul. 8, 2021—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.
Gene variant linked to unnecessary bone marrow biopsies in African Americans
Jun. 28, 2021—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.
Genetic ancestry and hypertension risk
Apr. 29, 2021—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.
Functional seizures associated with stroke, psychiatric disorders in electronic health records study
Jan. 7, 2021—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.
New tool to probe genetic mechanisms of disease
Oct. 22, 2020—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.
Award supports integration of genomic data, electronic health records
Sep. 10, 2020—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.
Robotic technology speeds arrhythmia gene classification
Jun. 12, 2020—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.
EHRs, biobanks and Mendelian diseases
Apr. 30, 2020—Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis.
New tool probes gene regulation
Feb. 6, 2020—Vanderbilt biochemists got unexpected results when they used their new approach to explore the role of DNA methylation in gene regulation.
Vanderbilt-led team discovers new genetic disease and defines underlying mechanism
Jan. 13, 2020—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.
How to fake a medical record
Nov. 4, 2019—Simulated electronic health records could avoid patient privacy risks and help speed discovery.
Gamazon receives NIH Genomic Innovator Award
Sep. 19, 2019—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.
