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UID:1072@bioscience.fi
DTSTART;TZID=Europe/Helsinki:20230327T000000
DTEND;TZID=Europe/Helsinki:20230327T000000
DTSTAMP:20250304T083758Z
URL:https://bioscience.fi/events/currently-recruiting-one-postdoc-or-gradu
 ate-level-researcher-to-study-missense-mutants-of-syngap1-suspected-to-cau
 se-non-syndromic-intellectual-disability/
SUMMARY:Currently recruiting: one postdoc or graduate level researcher to s
 tudy missense mutants of SynGAP1 suspected to cause non-syndromic intellec
 tual disability
DESCRIPTION:We are currently recruiting a researcher to join our SynGAP mis
 sense project - please see the following links until the closing date of M
 ay 7th 2023\n\nLinks\ncurrent open positions\ndirect link\n\n\nSynposis of
  project:\nSYNGAP1-related intellectual disability (or SynGAP syndrome)\, 
 an intellectual disability caused by de novo mutation of one of the two co
 pies of the SynGAP1 gene\, is heavily underdiagnosed.\nThere are no treatm
 ents or cures addressing the underlying cause but a number of potential th
 erapies are under development. As the majority of known cases appear to be
  caused nonsense or trucation mutants of the SynGAP1 gene\, leading to hap
 loinsufficiency\, or lack of functional protein\, these therapies aim to i
 ncrease the endogenous protein level.\n\nHowever in some known cases\, and
  perhaps the great majority of cases overall (PMID: 30541864)\, the SynGAP
 1 gene carries an missense mutation. In such cases\, diagnosis becomes les
 s certain and the potential risk or applicability of therapies designed to
  boost expression is unknown. For these reasons the mechanisms of #missens
 e variant dysfunction must be clarified. Our project aims to establish a p
 anel 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.\n\n
CATEGORIES:Neuronal Signaling Pathways Events
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