NIH researchers identify genetic cause of new vascular disease – 3
Narrator: This is NIH Health Matters. Iím Joe Balintfy. Researchers have identified the gene that causes a rare and debilitating vascular disorder not previously explained in the medical literature. Dr. William Gahl is clinical director at the National Human Genome Research Institute and director of the NIH Undiagnosed Diseases Program.
Gahl: We found that the gene was defective and we found that in three different families with this very, very unusual disorder. And this whole mechanism is something that was found out because of individual patients who had this disorder and whose gene mutation we found.
Narrator: This new disease finding is published in the New England Journal of Medicine. For details on this discovery, visit the website rarediseases.info.nih.gov/undiagnosed. Health Matters is produced by the National Institutes of Health, part of the U.S. Department of Health and Human Services.
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