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Genetic link to skin cancer already identified

DANVILLE, PA – Geisinger investigators Tooraj Mirshahi, Ph.D., and Janet Robishaw, Ph.D., have been awarded $1,928,660 by the National Institutes of Health to study human genetic variants that contribute to diseases.

These studies will examine the clinical impact of individual genetic variants that contribute to disease risk or disease progression.

“Using our integrative approach, we have already identified a precise mechanism for a specific genetic variation linked to skin cancer,” the scientists at Geisinger Health System’s Weis Center for Research noted. They hope to identify not only other genetic variants, but also how each variant changes cell function to contribute to specific aspects of disease susceptibility and progression.

Integrating functional genomic information into mainstream medical practice is a significant component of the broader precision medicine efforts underway at Geisinger.

One of those efforts is the genetics research collaboration with Regeneron Pharmaceuticals, Inc., in which Geisinger has collected blood and/or saliva samples from more than 80,000 consented volunteer participants. Regeneron is sequencing the samples to generate de-identified genomic data. If analysis of the genomic data indicates that the participant has a genomic results that could result in a medical condition that can be treated, the participant will be provided information on the condition, as well as education resources and guidance.

About Geisinger
Geisinger is committed to making better health easier for the more than 1 million people it serves. Founded more than 100 years ago by Abigail Geisinger, the system now includes nine hospital campuses, a health plan with more than half a million members, a Research Institute and the Geisinger Commonwealth School of Medicine. With nearly 24,000 employees and more than 1,600 employed physicians, Geisinger boosts its hometown economies in Pennsylvania by billions of dollars annually. Learn more at www.geisinger.org, or connect with us on Facebook, Instagram, LinkedIn and Twitter.