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 an integrated health services organization widely recognized for its innovative use of the electronic health record and the development of innovative care delivery models such as ProvenHealth Navigator®, ProvenCare® and ProvenExperience®. As one of the nation’s largest health service organizations, Geisinger serves more than 3 million residents throughout 45 counties in central, south-central and northeast Pennsylvania, and also in southern New Jersey at AtlantiCare, a Malcolm Baldrige National Quality Award recipient. In 2017, the Geisinger Commonwealth School of Medicine and Geisinger Jersey Shore Hospital became the newest members of the Geisinger Family. The physician-led system is comprised of approximately 30,000 employees, including nearly 1,600 employed physicians, 13 hospital campuses, two research centers, and a 583,000-member health plan, all of which leverage an estimated $12.7 billion positive impact on the Pennsylvania and New Jersey economies. Geisinger has repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit www.geisinger.org, or connect with us on Facebook, Instagram, LinkedIn and Twitter.

For media inquiries:

Corporate Communications
570-808-5813