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UID:1073@bioscience.fi
DTSTART;TZID=Europe/Helsinki:20220520T000000
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DTSTAMP:20250304T083758Z
URL:https://bioscience.fi/events/new-funding-for-studying-missense-mutants
 -of-syngap1-suspected-to-cause-non-syndromic-intellectual-disability/
SUMMARY:New funding for studying missense mutants of SynGAP1 suspected to c
 ause non-syndromic intellectual disability
DESCRIPTION:20 May 2022 Our lab is delighted to have been awarded funding f
 rom the SynGAP Research Fund US\, SynGAP Research Fund EU and Leon and fri
 ends e.V. for a new project on missense mutants of SynGAP1\n\nSYNGAP1-rela
 ted intellectual disability (or SynGAP syndrome)\, an intellectual disabil
 ity caused by de novo mutation of one of the two copies of the SynGAP1 gen
 e\, is heavily underdiagnosed.\nThere are no treatments or cures addressin
 g the underlying cause but a number of potential therapies are under devel
 opment. As the majority of known cases appear to be caused nonsense or tru
 cation mutants of the SynGAP1 gene\, leading to haploinsufficiency\, or la
 ck of functional protein\, these therapies aim to increase the endogenous 
 protein level.\n\nHowever in some known cases\, and perhaps the great majo
 rity of cases overall (PMID: 30541864)\, the SynGAP1 gene carries an misse
 nse mutation. In such cases\, diagnosis becomes less certain and the poten
 tial risk or applicability of therapies designed to boost expression is un
 known. For these reasons the mechanisms of #missense variant dysfunction m
 ust be clarified. Our project aims to establish a panel of assays to deter
 mine these mechanisms in an efficient and scalable manner. The most scalab
 le assays could in principle be used in future drug screening campaigns.\n
 \n\nNews: 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\n\nLinks\nhttps://bioscience.fi/open-positions"&gt\;current open pos
 itions\ndirect link\n\n
CATEGORIES:Neuronal Signaling Pathways Events
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