SYNGAP1 - Awareness, Advocacy, Education & Research
& RESEARCH NEWS
Keeping You Informed About All the
Latest News You Need to Know
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Previous News & Event Information
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
- 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.
- 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
CALL TO ACTION
Our Children Need Your Help!
100% of all funding raised will go towards supporting our upcoming
Externally Led - Patient Focused Drug Development Meeting: SYNGAP1 Patient Voices
November 19, 2020
Your Donation can Help the Voices of
ALL SYNGAP1 Children & Families be Heard!
My Giving Circle is Giving Away $200,000 to Nonprofit & Charity Organizations
Help Support BTG as one of your favorite charities by voting or donating today!
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WEGO Healthcare Leader Awards
We are excited to announce BTG's - President/CEO,
Monica Weldon has been nominated for a
"WEGO 2020 Health Leader Award!"
Monica is nominated in the following categories:
Hilarious Patient Leader
Patient Leader Hero
Advocating for Another
Help us show our support for all of her hard work by taking a moment to endorse Monica's nomination. Monica's steadfast dedication and contributions are making a positive impact for the whole SYNGAP1 Community!
BTG's Virtual Fundraiser showcased an evening of inclusion, conversation, song, and dance... and most importantly HOPE!
We want to send a heartfelt "Thank You" to every performer and volunteer that helped make this event a resounding success!!!
Hollywood & Broadway Comes Together to
Bridge the Gap recently hosted their
First Virtual Livestream SYNGAP1: Patient Voices Fundraiser on Sunday, June 28, 2020.
The fundraiser featured an incredible lineup of star-studded entertainers from Broadway, Hollywood, and Social Media.
100% of proceeds raised will be utilized to support BTG's 2020 Externally Led - Patient Focused Drug Development Meeting November 19, 2020.