Angelman Syndrome (AS) is a rare neurogenetic condition that affects 1 of 15,000 people or about 500,000 individuals worldwide. It is caused by the lack of or the malfunctioning of the maternal copy of the UBE3A gene, located on chromosome 15. Individuals with AS have the most beautiful and contagious smiles but typically have balance issues and motor impairment. Hence, they are non-verbal and some never walk. Most of them also suffer from sleep disorders and difficult to control seizures, among many other challenges. Currently, people with AS require continuous care and are unable to live an independent life. Hopefully, this will change in the next couple of years.
FAST (Foundation for Angelman Syndrome Therapeutics – www.cureangelman.org) is a nonprofit organization whose sole mission is to cure AS. They gathered and funded a team of renowned scientists and pharmaceutical companies who are exploring different strategies on gene therapy and downstream therapeutics. Angelman Syndrome has been cured multiple times in mice models and there is optimism to bring some of these therapies to human clinical trials in the next 2-3 years.
A cure for Angelman Syndrome will positively impact society at large. Since the UB3A gene has also been linked to other diseases and disorders such as Alzheimer and autism, a cure for Angelman Syndrome may be the gateway to effective treatments and better quality of life for people suffering any of the related conditions.
Because they are non-verbal and developmentally delayed, people diagnosed with AS are often misjudged as unintelligent, but they can acquire literacy skills and many learn to communicate using different means of AAC. We proudly support and embrace FAST mission to end the day-to-day struggle to do things that most of us take for granted so individuals with AS can focus in following their dreams and achieving their goals. As with any neurotypical individual, they deserve an opportunity to reach their full potential.
