Welcome!
Overcôme Syngap1 aims at raising awareness on the SYNGAP1 genetic disorder, helping families affected by the disease and raising funds to find a cure.
Mutations of the SYNGAP1 gene in humans can cause intellectual disability and/or epilepsy. This gene is also related to autism.
Our organization presently funds many projects to advance research on SynGAP1:
- in 2016, we began supporting research at Sainte Justine Hospital (Professor Michaud team) in Montreal. An article was published on the project that Mabel Carreno-Munoz had presented to you during a webinar. You can read it here:
- Since 2022, we have been supporting another project at McGill University, led by Professor Bowie, to test an approach for targeting the molecular pathways underlying intellectual disability. This project is being developed in collaboration with the American organization Syngap Research Fund. More details
- We are also funding, in collaboration with Syngap Research Fund, the research work of Professor Baptiste Lacoste at the University of Ottawa to explore new aspects of the disease: how brain energy use and blood flow can affect symptoms. By uncovering these links, this project could lead to more effective therapies or diagnoses that can make a real difference to the daily lives of patients and care partners, giving families hope of a brighter future.
- In France, we are continuing our collaboration with Professor Choquet’s Neurocampus department in Bordeaux, and in particular Eric Hosy’s team, which has been leading fundamental work on SynGAP1 pathology since 2020, on the role and effects of mutations in the SynGAP1 protein on synapse function. More details
Neurocampus Bordeaux is the French partner of the EURAS research project, which aims to:
– identify all SynGAP1 patients in Europe by collecting medical information to provide homogeneous data for scientific studies
– conduct fundamental research to identify the biological effects of the SynGAP1 mutation
– test which of the drugs available on the market could have a beneficial effect on SynGAP1 symptoms.If your child has SynGAP1, you’ve probably already been asked to take part in this study. Here’s the link to join the registry if you need to!
Follow us on Facebook!
Find out about our global network: https://www.syngapglobal.net/
To make a donation:
Thank you!!