"Kids with Angelman syndrome have one copy from the father ... I decided that it had to be a physical challenge because these ...

Months later, our son was born happy, healthy and there were no red flags present indicating Down syndrome or any other disorder. Of course, on the day the diagnosis of Angelman syndrome came our ...

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.

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.

"Angelman Syndrome is a neurogenetic disorder," said Weston's mother Felicia Warner. "It affects a lot of different things. It affects their balance, a very high percentage has seizures ...