First Angelman Syndrome Clinic
University of North Carolina Home to First-of-its-Kind Clinic in Nation
The Angelman Syndrome Foundation (ASF) announced today the official opening of the first clinic in the nation focused on serving the medical and psycho-educational needs of individuals with Angelman syndrome. The Comprehensive Angelman Syndrome Clinic is the result of a partnership forged with the ASF and the Carolina Institute for Developmental Disabilities (CIDD) at the University of North Carolina (UNC). At this model clinic, individuals with Angelman syndrome and their families will, for the first time, be able to visit multiple subspecialists in one setting to access the resources they need instead of having to visit multiple clinics across the nation. The initial funding for the clinic was provided by the ASF.
“In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as Angelman syndrome. Today’s announcement marks a major milestone for the Angelman syndrome community,” said Dr. Joe Piven, Director of the Comprehensive Angelman Syndrome Clinic. “Thanks to the leadership of the Angelman Syndrome Foundation, we are able to see partnerships such as this come together for the benefit of those with Angelman syndrome and their families. Having access for specific care and support at one state-of-the-art facility will be most beneficial.”
Occurring in one in 15,000 live births, Angelman syndrome is a congenital disorder similar to Autism that causes severe neurological impairment that appears in newborns and lasts for a lifetime. During fetal development, the loss of function of a particular gene in the brain occurs, resulting in neurons functioning incorrectly and causing deficits in development. Individuals with Angelman syndrome experience developmental delay, lack of speech, seizures, and walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability.
The Comprehensive Angelman Syndrome Clinic provides “one-stop-shop” access to a clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker, and nutritionist whom all specialize in Angelman syndrome.
Throughout the grand opening ceremonies today, researchers and families joined together to witness a check presentation of $38,855 from the ASF to the Clinic, which represented a total of more than $900,000 that the ASF has provided to the UNC and CIDD in the form of familial medical support and research grants. Mrs. North Carolina 2011, Jessica Harvey, joined the ceremony, whose sister-in-law has Angelman syndrome and is a strong national advocate for the Angelman syndrome community.
“Three years ago I attended a scientific symposium hosted by the ASF, and after meeting with families of individuals with Angelman syndrome and networking among the Angelman syndrome community, I was inspired to conceptualize a research and drug discovery project that would identify how to restore proper function to the gene that causes Angelman syndrome,” said Ben Philpot, Ph.D., a scientist at UNC. “The ASF provided the initial seed grant to launch this research project, and after countless hours of research and lab testing, our team discovered a unique approach that may help treat individuals with Angelman syndrome and help them lead normal lives. In my view, this clinic is just as important as the research to the families across the country who live with Angelman everyday while our research continues, which we hope will be able to move into the clinical trial phase in the next few years after we complete current testing in mouse models.”
The research conducted by Philpot’s team at UNC found that, for the first time in history, a drug compound has been used to restore proper function of the Ube3a gene. Since improper function, or “silence,” of the Ube3a gene is what has been determined to be the cause of Angelman syndrome, restoring proper function of the dormant Ube3a gene represents a possible therapeutic approach for treating the disorder. Using a unique process of screening more than 2,000 drug compounds through brain neurons – an extremely rare undertaking – 16 “unsilencing” compounds were discovered using a mouse model. Conducting pre-clinical trials is the next step in evaluating how to make this treatment available to individuals with Angelman syndrome, which is essential to determining the right compound, the right dosage and the right delivery method prior to conducting clinical trials.
“During the past 20 years, our foundation has focused its mission on providing tangible, accessible support for individuals and their families, and this clinic is another representation of our mission,” said Eileen Braun, executive director of the ASF. “To have a clinic such as this providing a comprehensive level of service for the Angelman syndrome community is very meaningful in a variety of ways. Opening the clinic today, on the heals of the recent research announcement last month by UNC, is exciting for our foundation, families, friends and supporters across the nation.”
The Comprehensive Angelman Syndrome Clinic is located at 101 Renee Lynne Court, Chapel Hill, N.C. 27510. To schedule an appointment or to learn more about the clinic, individuals can call Christie Turcott, clinical coordinator, at 919-966- 2074 or visit http://www.cidd.unc.edu/Angelman-Syndrome/.