Connecticut is hosting its 20th annual Angelman Syndrome Foundation Walk on Saturday, May 19 at 10:00 a.m. in Cheshire.
Each year the nation’s ASF Walks raise over a million dollars in essential funding to advance research and find treatments and a cure for Angelman Syndrome. Funds raised also provide critical resources and family support services.
UConn Health is an annual sponsor of CT’s ASF Walk and its “UConn Health AS Research” team of faculty and staff will be led by Dr. Stormy Chamberlain, the Raymond and Beverly Sackler Associate Professor in the Department of Genetics and Genome Science.
Children born with Angelman Syndrome experience delayed development, usually cannot speak more than a few words, and can be unusually fair with blond hair and blue eyes. They also tend to be happy, and smile a lot. Most children are not diagnosed until at least a year old with doctors rarely recognizing it. Children can often be given a generic misdiagnosis of autism instead.
“UConn Health is deeply invested in Angelman Syndrome research and the affected families,” says Chamberlain. Her laboratory and three others at UConn and UConn Health are actively doing research to help the 38 families in Connecticut and others beyond with a child with Angelman Syndrome. As a developmental geneticist Chamberlain researches Angelman Syndrome at UConn Health using patients’ donated blood and skin cells. In the lab she is able to turn these cells into stem cells and grow brain tissue cells called neural epithelium to advance scientific knowledge.
Angelman Syndrome occurs when a single gene, UBE3A, is deleted on a child’s 15th chromosome. As a result, brain cells of individuals with the genetic defect fail to mature, disrupting the ability of the cells to form proper synaptic connections and causing a cascade of other developmental deficits that result in the rare neurogenetic disorder.
What: CT’s Angelman Syndrome Foundation Walk
When: Saturday, May 19
Registration: 9:00 a.m.
Walk Begins: 10:00 a.m.
Where: Cheshire High School
525 S. Main Street, Cheshire, CT
Register: online.
