Skip to main content
Premium Trial:

Request an Annual Quote

Geisinger Awarded $2.8M Grant for Familial Hypercholesterolemia Research

NEW YORK — Geisinger said on Tuesday that it has been awarded a four-year grant worth $2.8 million from the National Heart, Lung, and Blood Institute to develop new methods for the identification and cascade testing of familial hypercholesterolemia (FH).

According to Danville, Pennsylvania-based Geisinger, its researchers will work with collaborators at the nonprofit FH Foundation to test FH patient identification methods, including two phenotypic algorithms that will be applied to participants in Geisinger's MyCode Community Health Initiative biobank of whole-exome sequence data. The investigators will also assess the ability to detect FH through exome sequencing using MyCode data.

Additionally, the investigators will evaluate ways to increase screening of at-risk relatives of individuals with FH, as well as study the feasibility, acceptability, and cost of these methods in healthcare systems.

"Familial hypercholesterolemia is profoundly underdiagnosed in the US, leading to premature death in the absence of proper identification and subsequent treatment," said Amy Sturm, a researcher at Geisinger's Genomic Medicine Institute and one of the study's principal investigators. "This study will focus on not only identifying FH, but also the development and design of innovative tools and programs to help individuals with FH encourage their at-risk family members to be screened for the disorder."

Earlier this year, Geisinger researchers won a $3.1 million grant to develop genomic-based approaches for detecting arrhythmogenic right ventricular cardiomyopathy.

The Scan

Support for Moderna Booster

An FDA advisory committee supports authorizing a booster for Moderna's SARS-CoV-2 vaccine, CNN reports.

Testing at UK Lab Suspended

SARS-CoV-2 testing at a UK lab has been suspended following a number of false negative results.

J&J CSO to Step Down

The Wall Street Journal reports that Paul Stoffels will be stepping down as chief scientific officer at Johnson & Johnson by the end of the year.

Science Papers Present Proteo-Genomic Map of Human Health, Brain Tumor Target, Tool to Infer CNVs

In Science this week: gene-protein-disease map, epigenomic and transcriptomic approach highlights potential therapeutic target for gliomas, and more