Angelman syndrome has no cure and few treatments but the rare genetic disorder now has the first clinic in the nation dedicated to the condition.
The University of North Carolina at Chapel Hill has opened its Comprehensive Angelman Syndrome Clinic to offer counseling, support and services to patients who have Angelman syndrome. The clinic, a part of UNC’s Carolina Institute for Developmental Disabilities in Carrboro, North Carolina, will for the first time bridge clinical approaches to the condition with genetic research toward a cure.
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UNC has the nation’s highest concentration of Angelman researchers, said neuroscientist Benjamin Philpot, a professor of cell and molecular physiology and a member of UNC’s Neuroscience Center. Philpot said that the proximity of patients to researchers should inform UNC’s Angelman research. The presence of the clinic will also help when researchers are ready to recruit patients for human testing, said Eileen Braun, executive director of the Angelman Syndrome Foundation.
“When the time comes to put research into clinical trials, we hope that work can be done here,” she said.
Angelman syndrome occurs in an estimated one in 15,000 live births – about 300 children each year. The disorder shares some characteristics with autism spectrum disorders and patients have developmental delay, speech impairment, intellectual disability and seizures. Children who have Angelman syndrome also express a happy or excitable demeanor with frequent smiling, laughing and hand flapping. Though Angelman patients are sometimes described as having an angelic appearance, the disorder derives its name from English physician Dr. Harry Angelman who in 1965 first reported three children exhibiting characteristics of the disorder. Angelman patients live a normal life span with the disorder.
Angelman syndrome comes from a mutation or deletion of the Ube3a gene that produces a protein important in helping brain neurons pass electrical or chemical signals. Angelman is linked to mutations or deletions in the Ube3a gene inherited from the mother. Paternal Ube3a remains present, but dormant. Philpot is working on research to “awaken” the paternal gene. The UNC research is still pre-clinical. The research so far was recently published in the journal Nature.
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While Philpot’s work won’t be ready for clinical trials for some time, patients with Angelman syndrome will be able to see benefits from the clinic immediately. Treatment of Angelman syndrome means addressing symptoms such as seizures or physical therapy. Families typically take their children to multiple specialists in multiple locations. The UNC clinic houses multiple specialists in a single location. Anne Wheeler, a psychologist at the clinic, said that the clinic is intended to serve patients from all over North Carolina though as the only clinic of its kind it could also support patients from out of state.
The Angelman Syndrome Foundation gave $38,855 to support the launch of the UNC Angelman clinic. But Braun said there will be more facilities. The UNC site is envisioned as a template for other Angelman clinics that the foundation hopes will open around the country within the next two years.
Photo from Flickr user AdamSelwood
