New funding for studying missense mutants of SynGAP1 suspected to cause non-syndromic intellectual disability
20 May 2022 Our lab is delighted to have been awarded funding from the SynGAP Research Fund US, SynGAP Research Fund EU and Leon and friends e.V. for a new project on missense mutants of SynGAP1
SYNGAP1-related intellectual disability (or SynGAP syndrome), an intellectual disability caused by de novo mutation of one of the two copies of the SynGAP1 gene, is heavily underdiagnosed.
There are no treatments or cures addressing the underlying cause but a number of potential therapies are under development. As the majority of known cases appear to be caused nonsense or trucation mutants of the SynGAP1 gene, leading to haploinsufficiency, or lack of functional protein, these therapies aim to increase the endogenous protein level.
However in some known cases, and perhaps the great majority of cases overall (PMID: 30541864), the SynGAP1 gene carries an missense mutation. In such cases, diagnosis becomes less certain and the potential risk or applicability of therapies designed to boost expression is unknown. For these reasons the mechanisms of #missense variant dysfunction must be clarified. Our project aims to establish a panel of assays to determine these mechanisms in an efficient and scalable manner. The most scalable assays could in principle be used in future drug screening campaigns.
News: 11 April 2023 – we are now recruiting a researcher to join this project – please see the following links until the closing date of May 7th 2023