Genetics & Genomics

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.

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.

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.

Study explores clinical uses for polygenic risk scores

Vanderbilt University Medical Center has received a five-year, $4.5 million grant from the National Human Genome Research Institute to assess clinical outcomes and economic value of screening large, diverse health care populations for disease risk using polygenic risk scores.

Preempting sudden cardiac death

A technique to characterize all variants in genes associated with arrhythmia could improve the ability to identify and preemptively treat individuals at risk for sudden cardiac death.

BMI genetics influence heart function

Vanderbilt researchers have discovered that a genetic predisposition to elevated body mass index increases the risk of diastolic dysfunction — a cardiac condition that can lead to heart failure.

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