Angelman Syndrome is a rare genetic disorder caused by UBE3A gene mutations, leading to developmental delays, speech issues, seizures, and distinct behaviors like frequent laughter and hyperactivity.

Dr. Roger Hollis from the University of California, Los Angeles, project scientist from the laboratory of Dr. Donald Kohn, a world leader in developing gene replacement therapies using blood stem ...

a biotechnology company founded by the Foundation for Angelman Syndrome Therapeutics (FAST), has demonstrated complete symptomatic correction in the commonly used adult mouse model of the disease.

All told, 97% of people in the medium and high dose groups saw an improvement in overall symptoms measured using the Symptoms of Angelman Syndrome–Clinician Global Impression-Change (SAS-CGI-C ...

to treat Angelman syndrome (AS). "This program has consistently delivered remarkable animal data, reinforcing its potential as a groundbreaking treatment," said Dr. Donald Kohn, Distinguished ...

Joey Ceonzo, 29, enjoys adult classes at the nonprofit ... whose 21-year-old son James has Angelman syndrome, a rare neurogenetic disorder that is often misdiagnosed as autism.

Just before Immy's third birthday, the family finally received an answer: Angelman syndrome, a rare neurogenetic disorder causing global developmental delays. The diagnosis left them wondering if ...

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic ...

Unfortunately, this process works against the interests of adults with intellectual and developmental disabilities, who are relatively invisible and often dependent on others to speak on their behalf.