Isabel Calderón, a member of the CHI Board of Directors from Canada, attended the Annual Congress of the Canadian Organization for Rare Disorders (CORD) held in Ottawa on October 1-2, 2010. A full two days of presentations and workshops made up the agenda. About 120 representatives from different Canadian rare disorder associations and individual patients … Read more
As a bit of a follow up to the last post about genetic screening, I thought this article by Dr. Benjamin Glaser might be a good addition. Here is an exerpt: Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. … Read more
Carriers of a genetic mutation caused by the ABCC8 gene which can result in children with congenital hyperinsulinism (HI), can now be tested at fertility clinics in many locations around the country through a simple saliva test. The test, made by a California company, Counsyl, actually screens for 100 different rare disorders including HI. An … Read more
Lori has found an intersting article abstract about newborn molecular genetic testing in Europe. http://www.endocrine-abstracts.org/ea/0016/ea0016pl5.htm