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Dyskeratosis Congenita Workshop Sheds Light on Vascular Complications

Posted on October 27, 2017

In October 2017, investigators in the Clinical Genetics Branch (CGB) hosted a workshop entitled “Vascular Complications in Dyskeratosis Congenita.” The two-day meeting brought together researchers and advocates to discuss the state of the science for such complications, and to brainstorm future avenues for research.

Sharon Savage, M.D., Chief of CGB, and Payal Khincha, M.D., clinical fellow, presented at the workshop. Blanche Alter, M.D., M.P.H., Senior Clinician, Sonia Bhala, postbaccalaureate fellow, Neelam Giri, M.D., M.B.B.S., staff clinician, Cecilia Higgs, M.H.S., scientific and technology management specialist, and Lisa McReynolds, M.D., Ph.D., clinical fellow, also participated.

Dr. Savage reported, "This was the first meeting focused on understanding the complexities of dyskeratosis congenita associated vascular complications, including arteriovenous malformations, gastrointestinal bleeding, and retinal vascular abnormalities. Clinical subspecialists from hematology, oncology, hepatology, gastroenterology, pulmonology, and ophthalmology shared cases and, together with basic scientists, developed new hypotheses aimed at understanding the etiology and improving clinical management."

The workshop was planned in collaboration with Dyskeratosis Congenita Outreach, Inc., the Cancer and Blood Disorders Center at Dana-Farber and Boston Children’s hospitals, the Texas Children’s Hospital, and the Clinical Care Consortium for Telomere Associated Ailments.

Attendees at the Vascular Complications in Dyskeratosis Congenita workshop.

Attendees at the Vascular Complications in Dyskeratosis Congenita workshop.