Updates

We are currently recruiting a researcher to join our SynGAP missense project – please see the following links until the closing date of May 7th 2023

Links
current open positions
direct link

Synposis of project:
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.