Syngap Elternhilfe e. V.
Syngap Elternhilfe e. V. is the German patient organization for families of children and adults with SYNGAP1 Syndrome. It was established as a patient support group in early 2016. Since 2021, it is a fully registered non-profit organization with 64 members and more than 110 known patients in Germany. It is led by a group of dedicated parents of affected children. Their work focusses on three main topics: awareness, patient support, and research.
Their main goals are:
- Finding more patients by improving diagnostics and educating parents of undiagnosed patients and by increasing awareness for SYNGAP1.
- Improving quality of life for affected families by providing information, consultation and exchange of experiences
- Advancing research with own projects to increase knowledge and to find better treatment by cooperating with clinicians and researchers.
To reach these goals, the organization connects with other patient organizations within the SYNGAP Global Network (SGN).
Role within EURAS
Syngap Elternhilfe e. V. (PA) is the initiator of the EURAS research project and will work on WP2 “PATRAS: advanced bioinformatics-assisted implementation and exploitation” and WP8 “Innovation management & patient engagement”.
Together with the clinicians from PMU Salzburg and OVGU Magdeburg as well as the bioinformaticians from the University of Malaga, Syngap Elternhilfe e. V. will work on the PATRAS patient registry. Syngap Elternhilfe e. V. will coordinate the work of the patient board and ensure continuous patient involvement in the project. With the help of the patient board, all families and caregivers of patients with CFC, Costello, Noonan and SYNGAP1 Syndrome will be invited to participate in the multilingual patient registry.
Within WP8, PA will work on communication to ensure among others that families of affected children and adults as well as other stakeholders are informed about the project and its purpose and progress.