martes, 28 de febrero de 2012

NIH spotlights research for rare eye diseases during Rare Disease Day, February 28, 2012 News Release - National Institutes of Health (NIH)

NIH spotlights research for rare eye diseases during Rare Disease Day, February 28, 2012 News Release - National Institutes of Health (NIH)


For Immediate Release
Tuesday, February 28, 2012
Contact:
National Eye Institute
301-496-5248

NIH spotlights research for rare eye diseases during Rare Disease Day

Statement from Paul A. Sieving, M.D., Ph.D., director of the National Eye Institute

On the fifth annual Rare Disease Day, the National Eye Institute (NEI), a part of the National Institutes of Health, joins patients and organizations around the world to raise awareness of rare diseases, celebrate advances in treatment, and pledge continued support of rare disease research.
In the United States, a disease is considered rare if it affects fewer than 200,000 Americans. Scientists have identified more than 7,000 rare diseases. Some rare diseases affect only a few hundred people. But considered together, rare diseases affect 25 million Americans, which means about 1 in every 10 people has a rare disease.
Inherited gene defects account for 80 percent of rare diseases, many of which affect vision. Recent advances in gene technology are illuminating our understanding of the causes of rare diseases and quickening the translation of discoveries into new treatments.
NEI scientists have successfully used gene therapy to improve vision in people with Leber congenital amaurosis, a rare genetic disorder that causes blindness through the degeneration of photoreceptor cells — the rods and cones in the layer of tissue in the back of the eye called the retina. Gene therapy helps restore gene function by inserting copies of normal, functioning genes into cells. Although vision gains were modest, successful demonstration of the strategy holds promise for treating other degenerative retinal disorders such as retinitis pigmentosa (RP). In January 2012, NEI scientists successfully used gene therapy to treat dogs with a condition similar to RP and are making plans to test the therapy in humans.
People with rare diseases, and their families, have unique challenges beginning with obtaining an accurate diagnosis, which is often delayed due to limited knowledge and awareness in the medical community.
EyeGENE, an NEI-sponsored collaborative network for ophthalmic research, is helping diagnose patients with eye-related genetic diseases while enabling researchers to study and characterize these rare conditions. Through a network of federally certified molecular diagnostic testing labs, patients who participate in eyeGENE gain access to free genetic testing, which is often expensive and not covered by health insurance. EyeGENE currently offers testing, at labs across the country, for more than two dozen rare genetic conditions. In exchange for free genetic testing, participants contribute their clinical and genetic information to the confidential eyeGENE registry. As researchers develop potential treatments, eyeGENE will help facilitate patient recruitment for clinical trials.
To help people living with low vision and blindness maintain or increase their independence, the NEI funds the development of assistive technologies and devices through Small Business Innovation Research awards and other grants. For example, Second Sight, a major recipient of NEI funding, has successfully developed a retinal prosthesis — essentially an externally worn digital camera wirelessly coupled to an electrode grid implanted on the retina inside the eye — that restores limited vision to people with RP.
Rare but Strong Together is the 2012 Rare Disease Day slogan. The NEI stands strong with rare disease patients and their families and is committed to providing research support and leadership for finding new treatments and cures for rare eye-related diseases.
During Rare Disease Day, NIH is holding a daylong symposium about rare disease research. For more information about the symposium, visit http://www.rarediseases.info.nih.gov/RareDiseaseDay.aspx.
For more information about Rare Disease Day, visit the NIH Office of Rare Disease Research at http://rarediseases.info.nih.gov./
The National Eye Institute, part of the National Institutes of Health, leads the federal government’s research on the visual system and eye diseases. NEI supports basic and clinical science programs that result in the development of sight-saving treatments. For more information, visit http://www.nei.nih.gov/.
About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov/.
NIH...Turning Discovery Into Health

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