The Patrick Wild Centre was excited to host the first UK SYNGAP1 Family Meet Up in June 2019! Families from around the UK and other parts of Europe came together in Edinburgh for a day of presentations about SYNGAP1 and neurodevelopmental disorders more generally. Distinguished speakers from many different National Health Service, university and charitable organisations shared their expertise. They covered everything from laboratory science SYNGAP1 studies to the SYNGAP1 Syndrome in people, the mapping out of SYNGAP1 clinical research trials and teaching daily living skills to children with autism and intellectual disability.
Throughout the day, the children had their own play space, but they joined us for a group photo!
Over the next two days, several families became our first participants in the Neuro-GD Study researching the impact of SYNGAP1 mutations on individuals’ functioning. The children with SYNGAP1 mutations and their caregivers participated in several research ‘stations’ including questionnaires, puzzles and a measure of brain activity called an EEG. Although it will take many months to analyse the data, do watch this space for results of the study in due course! If you would like more information or to potentially get involved, please contact Dr Damien Wright on 0131 537 6431 or email firstname.lastname@example.org.
Bridge the GAP SYNGAP ERF
The weekend was supported by the Bridge the Gap – SYNGAP – Education and Research Foundation, founded in the USA by a group of parents of children with SYNGAP1 mutations. Their mission is to serve, educate and fund research for families coping with the effects of SYNGAP1 mutations. Katy Kennedy and Melanie Battye from the foundation encouraged the families present to participate in the SYNGAP1 registry project. The registry is an online data system that systematically collects, stores, and retrieves patient data for analysis in research studies. It includes sections on socio-demographics, medical information, treatment and disease progression, management of care and quality of life. Other families with relatives with SYNGAP1 mutations can get more information at https://SYNGAP1registry.iamrare.org/Home/About