image: Kathryn Helde, PhD
Credit: SynGAP Research Fund
Mill Valley, CA – April 4, 2024 – SynGAP Research Fund 501(c)(3), the leading patient advocacy group working to improve the lives of SYNGAP1-Related Disorder (SRD) patients, today announced the appointment of Kathryn Helde, PhD, as its Chief Scientific Officer, effective February 1, 2024.
“SRF’s scientific grantmaking, industry partnerships, and repurposing efforts have grown past the point where we need a dedicated CSO,” says Mike Graglia, SRF’s Co-Founder and Managing Director. “We are fortunate to have a parent in our ranks who is as well trained, talented, and dedicated as Dr. Helde. As a volunteer for years, she has already contributed heavily to the work of the Fund on behalf of our patients and has relationships with numerous partners.”
Dr. Helde shared “I am honored to take a larger role within the SRF team of dedicated parents and caregivers. I especially look forward to curating patient data. I am committed to bringing the patient experience to our partners in research and development.”
The SRF Board of Directors resoundingly approved the appointment of Dr. Helde. “We are fortunate to have such a qualified CSO who both understands the nuances of genetics and is experienced in raising an individual with SRD,” stated Suzanne Jones, SRF’s Board of Directors Chairperson.
Kathryn Helde is committed to SRF’s mission to accelerate the development and availability of disease-modifying therapies for those living with SRD. “I am excited to be in a position to connect with scientists and industry partners working on SYNGAP1 biology, structure, diagnostics, and therapies. With the explosion of SYNGAP1 research and treatment development, it is our goal to identify the actions that will make the biggest difference to the lives of our affected loved ones and their families, as soon as possible.” Both children and adults affected by SRD are living with a deficit of SynGAP protein. The sooner cells receive sufficient SynGAP, the sooner symptoms like epilepsy, intellectual disability, and sensory distress may be alleviated. Time is brain.
About Kathryn Helde
Kathryn Helde comes to the role of CSO with the perspective of a developmental biologist and geneticist. Helde graduated from Princeton University in 1988 with a degree in Molecular Biology. She was an early contributor to methods and insights in zebrafish as a model for vertebrate embryogenesis, during her graduate work (U. of Utah, 1995 PhD in Human Genetics), postdoctoral fellowship (U. Washington, 1995-1999 in Pharmacology), and as a Research Scientist (Fred Hutchinson Cancer Research Center, 2008-2013). Helde’s experience with developmental molecular genetics informs her approach to understanding how DNA variants cause SYNGAP1-Related Disorders (SRD) and how SRD can be treated.
Responsibilities as CSO
SRF’s CSO is responsible for managing grants, partnering with SRF’s leadership to engage industry and encourage investment in SRD treatments, liaising with the Clinical and Scientific Advisory Boards, leading SRF’s Family Network efforts to promote the success of clinical trials with appropriate biomarkers and measurable outcomes, as well as supporting scientific communication to the community of affected families.
About SYNGAP1-Related Disability (SRD)
SYNGAP1-related intellectual disability (ICD-10 F78.A1; ICD-11 LD90.Y) is an ultra-rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SynGAP protein levels. SRF has identified over 1,400 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. Other locations and functions of SynGAP protein are also under study.
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 family-led, SRF is the largest non-government funder of SYNGAP1 research, having committed over $5 million in grants in just five years. The vast majority of donations fund science and patient-related programs. SRF’s grant program awards one or two-year grants to investigators, physician residents, and clinicians 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 FasterCures, COMBINEDbrain, Global Genes Foundation Alliance, Everylife Foundation Community Congress, Epilepsies Action Network, Personalized Medicine Coalition, Rare Epilepsy Network, and the Epilepsy Leadership Council.
For more on SRF, visit cureSYNGAP1.org or follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok and X.