The General Motors charity car show was held on Sunday in Cheshire, benefitting families with children diagnosed with Angelman Syndrome. Angelman Syndrome affects one in ...

On June 27, Ultragenyx Pharmaceutical announced that the US FDA granted Breakthrough Therapy Designation for GTX-102 (apazunersen) as a treatment for Angelman syndrome.

Angelman syndrome (AS) is characterized by severe mental retardation with absent speech, microcephaly, inappropriate laughter, seizures, and a stiff, ataxic gait.

On June 27, Ultragenyx Pharmaceutical announced that the US FDA granted Breakthrough Therapy Designation for GTX-102 (apazunersen) as a treatment for Angelman syndrome.

Loss of this 2-Mb domain on the paternal or maternal allele results in two neurogenetic disorders, Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively.

Thousands of families around the world are impacted by Angelman syndrome, but there isn’t a lot of public awareness of this rare condition. Read ahead to learn more about this disorder, and the ...

Frank Sheehy Park in Listowel was the place to be on Saturday morning as the Listowel Emmets GAA/LGFA held an ‘Ice Cream Day’ family fundraiser in aid of Down Syndrome Kerry.

Leniolisib for untreated activated phosphoinositide 3-kinase delta syndrome in children 4 to 11 years [TSID12190] ...