Bridge the Gap

THE BIG PICTURE

• Learn how Monica Weldon and BTG teamed up with two of SYNGAP1's Top Neuroscientists... leading to new SYNGAP1 insights!  Patient Driven Research for SYNGAP1  Published: 10/15/2019; Author: Charlie Wood; Society for Neuroscience (NSF) on BrainFacts.org
  
• Gene Repair Improves Memory and Seizures in Adult Mice Autism Model  The Rumbaugh lab at Scripps Research in Florida reports improvement in measures of seizure and memory in adult mouse models of a genetic cause of autism, calledSYNGAP1 disorder.
  Thomas K Creson, Camilo Rojas, Ernie Hwaun, Thomas Vaissiere, Murat Kilinc, Andres Jimenez-Gomez, Jimmy Lloyd Holder Jr, Jianrong Tang, Laura L Colgin, Courtney A Miller, Gavin Rumbaugh   Published: 04/26/2019  elifesciences.org/article
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• Phenotypic and Genetic Spectrum of Epilepsy With Myoclonic Atonic Seizures
  We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE).
  Shan Tang,  Laura Addis, Anna Smith, Simon D. Topp, Manuela Pendziwiat, Davide Mei,  Alasdair Parker, Shakti Agrawal, Elaine Hughes, Karine Lascelles, Ruth E. Williams, Penny Fallon, Robert Robinson, Helen J. Cross, Tammy Hedderly, Christin Eltze, Tim Kerr, Archana Desurkar, Nahin Hussain, Maria Kinali, Irene Bagnasco, Grace Vassallo, William Whitehouse, Sushma Goyal, Michael Absoud, EuroEPINOMICS‐RES Consortium: Rikke S. Møller, Ingo Helbig, Yvonne G. Weber, Carla Marini, Renzo Guerrini, Michael A. Simpson, Deb K. Pal 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29.
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• SYNGAP1: From Rare Disorder to Common Cause
  In 2009, Monica Weldon began a Diagnostic Journey, to help her young son Beckett. She had been searching for a diagnosis for his developmental delays and physical symptoms. However, when Beckett was diagnosed with SYNGAP1 through genetic testing in 2012, his diagnosis led to more questions than answers. Monica discovered that there were few resources to gain information from and no specific SYNGAP1 clinical treatment guidelines available. Learn more about how Monica brought SYNGAP1 families, clinicians and researchers to lay the foundation for Bridge the Gap.  Article by: Lisa Singer - sparkforautism.org