Orlando, FL – 19 October 2023 – The Syngap Research Fund (SRF) will host Uniting for Progress — its fifth annual conference on SYNGAP1 research and clinical care on Thursday, November 30 at the Embassy Suites in Orlando, Florida. Clinicians, researchers, industry professionals and SYNGAP1 families are invited to register at SyngapResearchFund.org.
“Uniting for Progress will showcase how SRF and the SYNGAP1 community are ready to partner with industry to deliver therapies for patients with this horrible disease. It is an important opportunity for us to collaboratively improve the lives of people with SYNGAP1” said Mike Graglia, Managing Director of SRF.
“The SRF annual scientific conference is an excellent opportunity to learn about the latest advances in SYNGAP1 research and to collaborate with other researchers on new projects. I am excited to be a part of this event and to help make a difference in the lives of people with SYNGAP1 Related Disorder,” said Dr. Kim Wiltrout, MD, of Boston Children’s Hospital.
The agenda will feature six sections:
- New Findings about SYNGAP1
- Drug Repurposing for SYNGAP1
- Understanding SYNGAP1 at a Molecular Level – VUS & Missense Variants
- Updates on Public Preclinical Pipelines
- Clinical Trial Readiness – Natural History
- Clinical Trial Readiness – Quantitative Measures
The scientific conference on Thursday will be followed by a family meeting on Friday, December 1, 2023 at the same location. Families are encouraged to attend both days.
“The conference is a pivotal annual event for the SYNGAP1 community. It is an invaluable opportunity to learn about the latest SYNGAP1 research, network with professionals who understand our children, bond with other families, and advocate for our loved ones. Coming together once a year fuels my passion and energy to be part of the SRF team building community and seeking precision therapies for our children,” said Suzanne Jones, parent of a child with SYNGAP1 & SRF Board Chair
We are grateful to our sponsors Stoke Therapeutics, Acadia Pharmaceuticals, Simons Searchlight, Tevard Biosciences, ciitizen/Invitae, Longboard Pharmaceuticals, and Rarebase for their support of this event.
“Every year this event continues to grow – more families, more researchers, more clinicians – and we couldn’t do it without our sponsors,” said Peter Halliburton, Director of Development for SRF.
Agenda with topics and speakers
- New Findings
- New insights in the DEEs, including SYNGAP1 by Prof. Scheffer, AO, MBBS, PhD, University of Melbourne
- Gene delivery by milk exosomes restores SYNGAP1 expression in mouse brains by Prof. Zempleni, PhD, University of Nebraska
- SYNGAP1 beyond the Synapse by Dr. Willsey, PhD, University of California, San Francisco
- Drug Repurposing
- Moderation by Dr. Xin Tang, PhD, of Boston Children’s Hospital
- Drug Repurposing Screen in Drosophila by Dr. Chow, PhD, University of Utah
- Drug Repurposing Screen in Patient Models by Dr. Moxham, PhD, Rarebase, PBC
- Lessons Learned from Phenylbutyrate Repurposing by Dr. Grinspan, MD, MS, Weill Cornell Medicine
- Understanding SYNGAP1 at a Molecular Level
- SynGAP missense: potential druggability and how might we get there by Dr. Courtney, PhD, Turku Bioscience Centre, Finland
- Modeling the structural effects of SYNGAP1 missense mutations using molecular dynamics simulations by Dr. Postila, PhD, Turku Bioscience Centre, Finland
- Integrated approaches to resolving SYNGAP1 missense variants of uncertain significance by Dr. Carville, PhD, Northwestern University
- iPSC models of SYNGAP1 dysfunction by Dr. Coba, PhD, University of Southern California
- Non-synaptic function of the ASD Associated Gene SYNGAP1 in Cortical Neurogenesis by Dr. Birtele, PhD, University of Southern California
- Preclinical Pipeline
- Why SYNGAP1 is an attractive target for Industry by Dr. Mingorance, PhD, Dracaena Consulting
- TANGO Platform by Dr. Aznarez, PhD, Stoke Therapeutics
- Praxis ASO Platform by Praxis Precisions Medicine
- Suppressor tRNAs for the treatment of DEEs by Daniel Fisher, MBA, Tevard Biosciences
- Clinical Trial Readiness – Natural History
- Moderation by Dr. Helbig, MD, Children’s Hospital of Philadelphia
- A prospective natural history study in SYNGAP1 – first insights from ENDD by Dr. Jillian McKee, MD, Children’s Hospital of Philadelphia
- Understanding the natural history of SYNGAP1 through data integration by Julie Xian, Children’s Hospital of Philadelphia
- Outlining the clinical landscape of SYNGAP1 through a computational phenotype approach using 5586 phenotypic annotations in 197 individuals by Dr. Kessler, MD, Children’s Hospital of Philadelphia
- SYNGAP1 Genotype and Phenotype Analysis by Dr. Kim Wiltrout, MD, Boston Children’s Hospital
- Meaningful Clinical Outcomes and Development of a Disease Concept Model by Katharine Cunnane, Weill Cornell Medicine
- Clinical Trial Readiness – Quantitative Measures
- Using EEG to understand “how the brain works” in SYNGAP1 by Dr. Levin, MD, Boston Children’s Hospital
- Deep Learning EEG Biomarkers in SYNGAP1 Rodent Models and Patients by Dr. Gonzalez-Sulser, PhD, University of Edinburgh
- Validating the ORCA for SYNGAP1 & other DEEs by Dr. Zigler, PhD, Duke University
- Recent Neurobehavioral Findings in SYNGAP1 by Dr. Frazier, PhD, John Carroll University
About SYNGAP1-related intellectual disability (SRID)
SYNGAP1-related intellectual disability (ICD-10 F78.A1) is a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SynGAP protein levels. SRF has identified almost over 1,300 patients to date, the number grows weekly. This protein acts as a regulator in the synapses (where neurons communicate with each other). When SynGAP protein levels are too low, we see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in SynGAP patients.
Symptoms of SYNGAP1 include: intellectual disability; epilepsy; hypotonia (low muscle tone); gross and fine motor skill delays; autism spectrum disorder; gastro-intestinal disorders; sleep and behavior disorders and visual abnormalities.
About the SynGAP Research Fund (SRF)
The mission of the SynGAP Research Fund (SRF) is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies and support systems.
SRF was founded in the US in 2018 as a 501(c)(3) US public charity, and families created sister organizations for SRF in the UK in 2020, in Europe (Netherlands) in 2022, and in Latin America (Colombia) in 2023.
Completely parent-led, SRF is the largest non-government funder of SynGAP research having committed over $4 million in grants to date. The founders cover all operational costs, ensuring donations fund science. SRF’s grant program awards one or two-year grants to investigators, physician residents, and clinicians who are interested in studying SYNGAP1. SRF grants are intended to help researchers explore novel ideas and answer open questions related to the clinical aspects of and therapies for SRID.
SRF is a member of the COMBINEDbrain, Global Genes Foundation Alliance, the Everylife Foundation Community Congress, Personalized Medicine Coalition, Rare Epilepsy Network, and the Epilepsy Leadership Council.
For more on SRF, visit: SyngapResearchFund.org or follow @cureSYNGAP1 on X, LinkedIn, YouTube, Instagram, Facebook or TikTok.
