WORKSHOPS AND CONFERENCES ORGANIZED BY NICHD INTRAMURAL RESEARCH PROGRAM STAFF IN 2007

Irwin Arias chaired the17th Annual Irwin M. Arias, MD Symposium on Bridging Basic Science with Liver Structure, Function and Disease. The Symposium was held on November 2nd, 2007, at the Colonnade Hotel, in Boston. The Arias Symposia are educational programs that focus on applying advances in basic science to better diagnosis, treatment, and prevention of liver disease. Symposium attendees include biomedical scientists, physicians, post-doctoral fellows, gastroenterologists, hepatologists, primary care physicians, nurses, and students.

Together with Robert Steiner (Oregon Health Sciences University), Forbes Porter organized a meeting entitled “Smith-Lemli-Opitz Syndrome and Inborn Errors of Cholesterol Synthesis.” The meeting was held during the Smith-Lemli-Opitz/RSH foundation’s family meeting in Portland Oregon on June 28–30, 2007, and brought together more than 45 speakers and participants working on the Smith-Lemli-Opitz syndrome and related aspects of cholesterol biology. Topics discussed included the role of cholesterol during embryonic development, cholesterol metabolism and synthesis in the brain and neurons, placental cholesterol transport, oxysterols, the potential role of cholesterol in autism, and clinical aspects of the Smith-Lemli-Opitz syndrome. The meeting also provided an opportunity for parents of children with Smith-Lemli-Opitz syndrome to meet with and discuss clinical problems with several physicians and researchers familiar with the syndrome.

Lawrence Nelson helped organize an NICHD Workshop entitled “FMR1 Premutation and Premature Ovarian Failure: Worldwide Community Guideline Development,” which was held in New Orleans on October 26, 2006, and was convened in collaboration with the American Society for Reproductive Medicine. The purpose of the workshop was to establish standardized clinical definitions and terminology for the spectrum of altered ovarian function that is associated with the FMR1 premutation and testing recommendations for women who present for reproductive care. The proceedings of the meeting are being prepared for publication.

Karel Pacak helped organize the first conference on SDHB-related pheochromocytoma, which was held at NIH on September 29, 2006. The conference took the form of as a series of interactive sessions for health professionals and patients. More than 75 patients and their relatives from around the U.S. participated. The interest generated among patients, especially those with the most deadly forms of pheochromocytoma, led to an inundation of over 250 requests from patients, their children, and relatives to conduct genetic screening. Pacak also helped organize the Second Annual Conference on Pheochromocytoma, which was held on September 28–29, 2007, at the DoubleTree Hilton in Bethesda, Maryland.