The SynGAP Analysis Fund 501(c) right now introduced a grant to Dr. Danielle Andrade, Dr. Miles Thompson, Dr. Ryan Yuen, Dr. Rogier Kerssebook, and Dr. Anatoljevna Anna Kattentidt to help analysis on SynGAP-Associated Dysfunction (SRD) in adults. SRD is a uncommon neurodevelopmental dysfunction that causes extreme intractable epilepsy, and mental incapacity, and is likely one of the main genetic causes of autism.
Dr. Andrade’s staff just lately revealed the one analysis on SRD in adults in Neurology Genetics, Rong 2023 which SRF was instrumental in encouraging and supporting by way of recruitment. See Dr. Andrade’s readout on this work on the 2022 SRF SYNGAP1 Convention right here. The grant SRF is saying right now will construct on that groundbreaking work.
Dr. Andrade, MD, the principal investigator for this work says “This analysis holds deep significance not only for the adults on this examine but in addition for kids affected by SYNGAP1. As kids turn into adults, investigating the outcomes of SYNGAP1 is pivotal in empowering households and clinicians alike, equipping them to display screen for, diagnose, and handle manifestations seen in adults. Additionally, findings of this examine might be necessary to information precision therapies in addition to consider their efficacy.”
Michael Graglia, Managing Director of SRF, and father to a toddler with SRD says “Dr. Andrade is the world’s main knowledgeable in adults with DEEs, the SYNGAP1 group could be very lucky to have her consideration centered on our illness. She and her colleagues are world-class.”
Dr. Marta Dahiya, MD, SRF’s Head of Scientific and mom to an grownup with SRD says, “Whereas many sufferers right now will not be but adults, they’ll all turn into adults and this analysis will inform and help their care and created the chance for grownup sufferers to be included in therapeutic research. Each household must be thrilled about this work.”
It’s thrilling to see this transatlantic cooperation the place the massive variety of adults with SYNGAP1 Associated Problems within the Netherlands are in a position to be studied and included on this important work.”
Katrien Deckers, head of SRF-Europe
How to enroll
Households with a beloved one with SYNGAP1 Associated Dysfunction age 16 or older can be part of the accessible on-line examine by emailing [email protected], extra data is accessible within the examine flyer.
In regards to the challenge
The first objective is to comprehensively perceive the grownup phenotypes and pure historical past of SRD sufferers, in addition to the variations between these with and with out epilepsy, to be able to promote optimum care amongst grownup sufferers.
They’ll examine the presence of seizures and their severity, motion abnormalities, adaptive abilities, habits, gastrointestinal signs, sleep difficulties, and comorbidities amongst sufferers at our Grownup Genetic Epilepsy (AGE) clinic in Canada, on the grownup SYNGAP1 clinic within the Netherlands and externally via affected person organizations such because the SynGAP Analysis Fund.
They can even decide the genotype/phenotype correlations between SYNGAP1 sufferers with and with out epilepsy. This might be achieved by way of WGS sequencing to seek for uncommon variants with giant impact dimension that influences the phenotype, and the contribution of widespread variants to particular person options of the phenotype, via calculating the polygenic danger rating (PRS) for various comorbidities. This analysis will present useful perception into the distinctive experiences and scientific outcomes of grownup sufferers with SRF whereas selling dialogue on the significance of exact and well timed prognosis and remedy of grownup sufferers.
In regards to the staff
Dr. Danielle Andrade, MD, MSc, FRCPC, is the Medical Director of the Epilepsy Program at College Well being Community and founder and Director of Krembil Neuroscience Institute Grownup Genetic Epilepsy (AGE) Program. Dr. Miles Thompson, Ph.D., GCGCVI Scientific Affiliate, is with Krembil Analysis Institute, Toronto Western Hospital, and College Well being Community. Dr. Ryan Yuen, Ph.D. is the Senior Scientist, Genetics & Genome Biology Program, at The Hospital for Sick Youngsters – Toronto, Canada. Dr. Rogier Kerssebook, MD, Ph.D. is a Advisor in Scientific Genetics, at Erasmus Medical Centre, Rotterdam, The Netherlands. Dr. Anatoljevna Anna Kattentidt, MD, is a Scientific Geneticist and Doctor, at Erasmus Medical Heart, Rotterdam, The Netherlands.
College Well being Community, Toronto, Canada – https://www.uhn.ca
The Hospital for Sick Youngsters, Toronto, Canada – https://www.sickkids.ca
Erasmus Medical Centre, Rotterdam, the Netherlands – https://www.erasmusmc.nl/nl-nl/
About SYNGAP1-related mental incapacity (SRD)
SYNGAP1-related mental incapacity (US ICD-10 F78.A1 / World ICD-11 LD90.Y) is a uncommon genetic dysfunction brought on by variants on the SYNGAP1 gene that scale back SynGAP protein ranges. This protein acts as a regulator within the synapses (the place neurons talk with one another). When SynGAP protein ranges are too low, we see a rise in excitability within the synapses making it tough for neurons to speak successfully. This results in many neurological points seen in SynGAP sufferers.
Signs of SYNGAP1 embody mental incapacity; epilepsy; hypotonia (low muscle tone); gross and high quality motor ability delays; autism spectrum dysfunction; gastro-intestinal points; sleep and habits issues and visible abnormalities.
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