When Diseases Disappear — The Case of Familial Dysautonomia Oct 22, 2009
NEJM -- When Diseases Disappear -- The Case of Familial Dysautonomia ... When Diseases Disappear The Case of Familial Dysautonomia ... A representative example is familial dysautonomia, a severe neurologic condition, the incidence of which has decreased precipitously since population screening began in 2001 (see graph). (New England Journal of Medicine)
Local companies donate services for Newton girl with rare genetic disease Jul 30, 2009
At four weeks old, Avigail was diagnosed with familial dysautonomia, a rare genetic disease that disrupts the proper development and function of the autonomic and sensory nervous systems. Avigail s parents, Dani and Sigal, split her FD into two episodes. (Newton Tab, MA)
Expert urges testing for genetic disorders May 29, 2009
But they also share an increased incidence of Jewish genetic disorders (JGD) such as Gaucher, Tay-Sachs, familial dysautonomia, cystic fibrosis, Niemann-Pick and Canavan. Early screenings for these disorders and others can identify inherited genes that could lead to genetic disorders in children, says Gary S. Frohlich, M.S., CGS, senior medical affairs liaison for Genzyme Therapeutics. (Cleveland Jewish News, OH)