What Is Angelman Syndrome?
Angelman syndrome (AS) is a rare neurogenetic disorder that affects about one in 15,000 people, or approximately 500,000 individuals worldwide. Some say it could be as frequent as one in 8,000 people, or over 1,000,000 individuals worldwide.
People living with AS have a genetic difference on chromosome 15. People with these chromosomal changes do not produce any, or remotely enough, of something called UBE3A—which is a protein involved in brain functioning that helps us walk, talk and perform many other everyday tasks.
As a result, children and adults with AS typically have balance issues, motor impairments and can have debilitating seizures. Disruptive sleep is often a serious challenge. Some never walk. Most do not speak. Individuals with AS have a normal life expectancy, but require continuous care and are unable to live independently.
This is life today for people living with Angelman syndrome.
But it won’t be for long.
Scientists believe that AS is now the neurogenetic disorder with the greatest potential to be cured. FAST is the reason why, and the force making it happen.
Ready to know more about Angelman syndrome? You can start with the basics here.
For more about FAST, head on over here.
