Skip to main content

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
One of the nation’s most innovative health services organizations, Geisinger serves more than 1.5 million patients in Pennsylvania and New Jersey. The system includes 13 hospital campuses, a nearly 600,000-member health plan, two research centers and the Geisinger Commonwealth School of Medicine. Geisinger is known for its focus on caring and innovative programs including the ProvenCare® best-practice approach to maximize quality, safety and value; ProvenHealth Navigator® advanced medical home; Springboard Health® population health program to improve the health of an entire community; ProvenExperience™ to provide refunds to patients unhappy with their care experience; and Geisinger’s MyCode® Community Health Initiative, the largest healthcare system-based precision health project in the world. With more than 215,000 volunteer participants enrolled, MyCode is conducting extensive research and returning medically actionable results to participants. A physician-led organization, with approximately 32,000 employees and more than 1,800 employed physicians, Geisinger leverages an estimated $12.7 billion positive annual impact on the Pennsylvania and New Jersey economies. Repeatedly recognized nationally for integration, quality and service, Geisinger has a long-standing commitment to patient care, medical education, research and community service. For more information, visit www.geisinger.org, or connect with us on Facebook, Instagram, LinkedIn and Twitter.