Geisinger Health Secures $3.1M NIH Grant to Advance Genetic Diagnostic Methods for Arrhythmogenic Right Ventricular Cardiomyopathy

VCBeat (WeChat Official Account: vcbeat) has learned that on March 4, 2019, Geisinger Health announced it had received $3.1 million in funding from the U.S. National Institutes of Health (NIH) to develop methods for detecting arrhythmogenic right ventricular cardiomyopathy (ARVC).

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a hereditary heart disease primarily caused by mutations in genes encoding desmosomal proteins. It is characterized by right ventricular dysfunction and arrhythmias, often presenting without clinical symptoms until it leads to sudden cardiac death due to cardiac arrest. Its pathological hallmark is the replacement of cardiomyocytes by adipose or fibrofatty tissue. Current research indicates that desmosomal gene mutations, along with associated abnormalities in gap junction proteins, are likely responsible for the majority of ARVC cases.

With five years of funding from the National Institutes of Health, the health system based in Danville, Pennsylvania, announced that it will leverage whole-exome sequencing data from the Community Health Plan Biobank to analyze variations and associated phenotypic characteristics of arrhythmogenic right ventricular cardiomyopathy (ARVC). This community exome sequencing database contains more than 90,000 completed genomic sequences and over 250,000 consented participants. The community biobank will continue to enroll individuals carrying pathogenic or likely pathogenic ARVC variants for prospective clinical studies and related phenotypic assessments.

Geisinger Health also aims to investigate the association between exercise and ARVC penetrance, using magnetic resonance imaging to identify pathogenic ARVC variants as well as changes in cardiac structure and function in patients.

“By screening the genomic sequences for ARVC, we have the opportunity to identify patients at risk of cardiac arrest before disease symptoms appear,” said Christopher Haggerty, principal investigator at Geisinger Health, in a statement. “Early detection makes it possible to take preventive measures early on.”

Geisinger is an integrated healthcare delivery system widely recognized for its innovative care models and pioneering use of electronic health records. Its flagship facility, Geisinger Medical Center in Danville, serves more than 2.6 million residents across 44 counties in central and northeastern Pennsylvania. Its highly acclaimed innovative initiatives include ProvenHealth Navigator, which emphasizes a family medicine model, and the ProvenCare program.

In 2013, during Cernostics Pathology’s Series B financing round, Geisinger Health invested $1.4 million in the company. In April 2018, Geisinger Health acquired Cape Urgent Care.

The U.S. National Institutes of Health (NIH), established in the late 1870s, is the primary U.S. government agency responsible for biomedical and public health research, with most of its facilities located in Bethesda, Maryland.

The NIH conducts scientific research through its Intramural Research Program (IRP) and provides funding for biomedical research to non-NIH institutions through its Extramural Research Program. As of 2013, the IRP employed more than 1,200 principal investigators and over 4,000 postdoctoral fellows engaged in basic, translational, and clinical research, making it the largest biomedical research institution in the world.

The NIH comprises 27 independent institutes and centers focused on various biomedical disciplines. Its scientific research responsibilities include the discovery of fluoride for cavity prevention, the use of lithium in treating bipolar disorder, and the development of vaccines against hepatitis, Haemophilus influenzae type b (Hib), and human papillomavirus (HPV).

(Compiled by Wang Shuijing)