Affected populations: The disorder is believed to affect somewhere between 1 in 12,000 and 1 in 24,000 people, although these figures may be underestimated. Many cases of Angelman syndrome can go ...

Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation) in the UBE3A gene inherited from the mother.

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 ...

Shortly thereafter, diagnoses of Angelman syndrome began to rise. Today, the disorder is known to occur in approximately one in every 15,000 to 20,000 people, and it has been reported all over the ...

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 ...

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.

(NASDAQ: RARE), today announced that the first patient has been dosed in the pivotal Phase 3 Aspire study (NCT06617429) evaluating the efficacy and safety of GTX-102, its investigational antisense ...