Many cases of Angelman syndrome can go undiagnosed because the disorder shares symptoms and characteristics with other conditions. Men and women are equally likely to experience the disorder.

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.

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 ...

We each get two copies of every gene - one copy from each of our parents. But what happens when one of these genes has been "turned off", or imprinted, and the remaining gene is defective?

Ionis has committed to a phase 3 programme for its antisense therapy for rare genetic disorder Angelman syndrome, just weeks after Biogen decided against exercising an option to license the drug.

“In 2025, we will continue to expand our commercial base of business while we also prepare for the potential launch of our first gene therapy, in Sanfilippo syndrome, and to file a BLA for our ...