Dear Colleagues, Friends and Family,

With this message, I would like to ask for your contribution to the Angelman Syndrome Foundation. 

Early December I got the honor to visit the FAST congress in Chicago. During this congress, I learned a lot about Angelman Syndrome and got the chance to speak with little Angels and parents. To hear their personal stories, touched me deeply. Angelman Syndrome is a rare genetic neurodevelopmental disorder with a prevalence of 1 in 12,000 to 20,000 births. There is a high-unmet medical need and societal impact in many dimensions, and affected individuals require life-long care and cannot live independently. 

Individuals with AS have many features such as global developmental delay, intellectual disability, epilepsy (90% before age 3 years) with atypical underlying EEG, ataxia, tremor, hyperactivity, limited speech, and sleep dysregulation. 

Anxiety, aggression, and self-injurious behavior may also be present. 

Diagnosis of the disorder is often made based on emergence of clinical features after the first year of life although the developmental trajectory of AS is not well described, in particular regarding the antenatal and early postnatal periods. Currently, there are no disease modifying therapies available for AS, and care is limited to supportive interventions attempting to mitigate behavioral, motor, communication, and sleep deficits, combined with symptomatic treatment of medical complications, including seizures and sleep deficits.

I am working now on the Angelman Syndrome program within Roche. Recently I noticed a message on social media that the ASF was looking for a few additional runners to support the fundraising by participating in the Chicago Marathon. For me this is a chance to support the ASF also in a different way. I am so pleased that I can join the team; I would like to ask for your support to raise as much as money as we can, to support this important Foundation for Angelman children. Your support would be highly appreciated, please find more information on https://www.angelman.org/.