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Inherited Eye Diseases: Importance of Access to Genetic Testing for Rare Diseases

Summary

HHMI investigators Val Sheffield and Edwin Stone to speak on inherited eye diseases and genetic testing, May 22 on Capitol Hill. Open to the public.

In the last 15 years, researchers have identified more than 100 genes involved in inherited eye diseases. It is now theoretically possible to provide genetic testing to patients affected with diseases caused by these genes. But many of these disorders are considered rare diseases (affecting fewer than 200,000 people), and there is little financial incentive to develop commercially viable diagnostic tests. In fact, genetic testing for many inherited eye diseases is still not available to most affected patients.

At the University of Iowa, HHMI investigators Dr. Val Sheffield and Dr. Edwin Stone have devoted their lives to discovering the causes and improving the diagnosis and treatment of eye diseases, such as glaucoma, macular degeneration and retinitis pigmentosa. They have established a research center that offers genetic testing for dozens of eye diseases. The center now receives blood samples from clinicians throughout the world.

The CSIS/HHMI presentations by Drs. Stone and Sheffield will provide a personal look at how medical scientists confront the challenges of caring for patients with rare disorders. The presentations will address a number of policy issues that inhibit the availability of genetic tests for rare diseases, including access to genomic intellectual property and viewpoints of third-party payers regarding cost coverage for "unusual tests" to diagnose rare diseases. The speakers will also outline a "non-profit approach" that they are pioneering to maximize the deployment of genetic tests for inherited eye diseases.

Please join us for this session on May 22 from 12 pm to 2 pm in the Dirksen Senate Building, SDG11. If you would like to attend, please RSVP by email to biotech@csis.org with your full contact information. Questions can be directed to Sophia Siddiqui at (202) 775-3244.

This is the third in the seminar series on biotechnology and public policy co-hosted by the Center for Strategic and International Studies (CSIS) and the Howard Hughes Medical Institute (HHMI).

Scientist Profile

Investigator
University of Iowa
Genetics, Molecular Biology
Investigator
University of Iowa
Genetics, Medicine and Translational Research

For More Information

Jim Keeley
[ 301-215-8858 ]