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Duke Researchers Find Second Gene Linked To Blood Vessel Disorder

ilies were not linked to this gene, meaning HHT really has several forms," Marchuk said in the interview. "Now we have identified a second gene, and we believe there may be a third gene that can cause this disorder."

With two genes now described, Marchuk will begin to piece together what endoglin and ALK1 are doing, whether they interact with each other, and how each normally contributes to the ability of blood vessels to heal in response to injury.

While a treatment based on Marchuk's work may be some years down the road, he emphasizes that for the first 98 years since the disease was described in the medical literature, virtually nothing was known of its underlying cause. Now in two years, Marchuk and his colleagues have linked HHT to two genes and a potent growth factor, TGF-_.

"We've learned a lot in a short space of time," said Marchuk, an advisory board member of the HHT Foundation, a patient advocate group. "Give us a few more years to get this unraveled and we may yet find a clue that could lead to treatment."

Other contributors from Duke include Jonathan Berg, Melanie Baldwin, Carol Gallione, Timothy Stenzel, Marcy Speer, and Margaret Pericak-Vance. Researchers from the University of Edinburgh, Albert Einstein College of Medicine in Bronx, N.Y., University of Newcastle upon Tyne, University of Vermont, University of Toronto, and Henry Ford Hospital in Detroit also contributed.


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Contact: Karyn Hede George
georg016@mc.duke.edu
919-660-1301
Duke University
31-May-1996


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