Contact: Ann Roth of The Angelman Syndrome Foundation, 800-IF-ANGEL; [email protected]; Web site: www-chem.ucsd.edu/asf
PHILADELPHIA, July 27 /U.S. Newswire/ -- The Angelman Syndrome Foundation will sponsor a gathering of families, researchers, doctors and educators involved with the genetic disorder Angelman Syndrome (AS), Aug. 11-15 at the Cherry Hill Hilton in Cherry Hill, N.J.
Characterized by seizures, unusually happy demeanor, unstable gait, lack of spoken language, and sleep disorders, Angelman Syndrome is often misdiagnosed as Atypical Autism or Ataxic Cerebral Palsy. It is estimated that with proper diagnosis the AS population will eventually be 1 in 12,000.
Angelman Syndrome is caused by the abnormal function of the gene UBE3A, located within a small region (q11-q13) of chromosome No. 15. Genetic research into Angelman Syndrome applies to many related disorders. The same area of the 15th chromosome in which the UBE3A gene has been located is also being studied for related disorders such as Autism and as a cause for certain forms of epilepsy.
Angelman Syndrome families are extremely active in lobbying for research, new methods of education and treatment, and in providing support to other AS families. These families are well-educated and strong advocates for their children; many have found the diagnosis for their children's puzzling disorder through stories in the media or over the internet. There is a very active internet list serve for Angelman families and many families attending THE PHILADELPHIA EXPERIENCE will be meeting each other for the first time after talking over the internet for several years.
Biennial conferences like THE PHILADELPHIA EXPERIENCE provide a unique opportunity for doctors and researchers to meet with families and people with Angelman Syndrome. It is the hope of the Angelman Syndrome Foundation that these gatherings will provide families with support and education and will stimulate further research and fund-raising efforts to ultimately find a cure for this costly and devastating disorder.
Some of the events planned for THE PHILADELPHIA EXPERIENCE include:
August 11, Scientific Day. This will be a day to share recent scientific advances in Angelman Syndrome and will feature the most prominent researchers in the field of Angelman Syndrome, including, Dr. Charles Williams (University of Florida, Gainesville); Dr. Joseph Wagstaff (Children's Hospital, Boston); Dr. Arthur Beaudet (Baylor College of Medicine); Dr. Berge Minassian (Hospital for Sick Children, Toronto, Canada); and Dr. Robert Nicholls (Case Western Reserve).
August 12 will be a medical day and will focus on medical issues related to AS.
August 13 will focus on educational issues.
Saturday, August 14 will be a Family Support Day.
Conference speakers and conference participants are available for interviews. Press Packets available.
For press packets contact: Ann Roth, ASF 1-800-IF-ANGEL [email protected]; Web site: www-chem.ucsd.edu/asf
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