Angelman Syndrome
Angelman syndrome (AS) is a rare genetic disorder that affects approximately 1 in 15,000 individuals. AS impairs the function of the nervous system, producing symptoms, such as severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, hyperactivity, and sleep problems. Physical symptoms include a small head and a specific facial appearance. Additionally, those affected usually have a happy personality and have a particular interest in water. Angelman syndrome involves genes that have also been linked to 1–2% of autism spectrum disorder cases.
To date, no curative treatment has been validated for Angelman syndrome, but extensive research efforts are ongoing at the international level.
The author
I’m a French father of three, including Héloïse, born in 2016 with Angelman syndrome.
Using my professional experience to serve the Angelman community gives deep purpose to my journey.
I aim to build visibility, create stronger bonds between families, and attract new stakeholders — particularly pharmaceutical companies — to invest in innovative therapies that benefit all patients, whatever their age, genotype, or country.
