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SynGAP Research Fund (SRF) increases support for SYNGAP1 organoid research at the University of Southern California’s Quadrato Lab

SynGAP Research Fund (SRF) increases support for SYNGAP1 organoid research at the University of Southern California’s Quadrato Lab
2024-07-09
(Press-News.org) MILL VALLEY, Calif. – July 9, 2024 – SynGAP Research Fund (SRF), a 501(c)(3) public charity whose mission is to improve the quality of life for patients suffering from SYNGAP1-Related Disorders (SRD) through the research and development of treatments, therapies, and support systems, has awarded a $130,000 grant to the University of Southern California’s Quadrato Lab to inspect and stratify the effects of specific SYNGAP1 variants on their patient-derived neuronal model system, furthering the world’s understanding of SynGAP function. 

This grant builds on two previous SRF grants in 2020 and then 2021 to Dr. Marcelo Coba, a collaborator of Dr. Quadrato. Their collaboration is exactly the kind of research SRF is eager to support. For years, the Quadrato Lab has led the way in advancing the understanding of SynGAP function, in organoid models. They have discovered a previously unknown function of SynGAP in controlling human cortical neurogenesis. Results from this study –  ‘Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis’ – by Marcella Birtele and Ashley Del Dosso in the Quadrato lab was published late last year. USC’s article about this paper explains the importance of the findings.

In the next phase of their research, which will be supported by SRF, researchers in the Quadrato lab, including Dr. Marcela Birtele, will expand their work to inspect and stratify the effects of specific SYNGAP1 variants on their organoid model system. They will also examine the postsynaptic density (PSD) protein interaction network to better understand which other proteins interact with SynGAP in an important fashion and could present alternative targets for future therapeutics.

“This is a strong team of researchers that have been at the forefront of furthering our understanding of SynGAP,” said Michael Graglia, Managing Director of SRF. “With their work on complex models that few other labs have invested in, Drs. Birtele, Coba, and Quadrato have been very productive over the past few years, significantly expanding what we know about this critical neurological protein. I am thrilled SRF can support their progress and get us closer to a cure for SRD.” 

About the Project  The goal of the two-year project is to help researchers and pharmaceutical companies better understand the effects of possible interventions and generate new ideas for treatments, specifically: Phenotypic characterization of SYNGAP1 pathogenic variants and CRISPRi screening of SynGAP protein interactors to unveil novel convergent signaling for the treatment of intellectual disability. 

Dr. Giorgia Quadrato, PhD, assistant professor, stem cell biology and regenerative medicine and principal investigator, added: “We are so pleased to help SRF work towards the goal of finding a cure for SynGAP. With every new discovery, we are that much closer to the day when a diagnosis is not a lifelong sentence, but a moment in time that is followed by treatment and a lifetime of opportunities.”  

About the Quadrato Lab The Quadrato lab focuses on understanding the cellular and molecular basis of human brain development and neurodevelopmental disease. We seek to produce meaningful work that advances the fundamental knowledge of our field and provides new tools to do it. By combining emerging models of the human brain with single-cell omics approaches, we aim to identify cell type-specific disease mechanisms and, above all, new treatments for neurodevelopmental disorders. To improve the physiological relevance of human pluripotent stem cell-derived organoids, our lab is leveraging interdisciplinary strategies and technologies aimed at tighter regulatory control through bioengineering approaches, along with newer unbiased organoid analysis readouts. 

About SYNGAP1-Related Disorder (SRD) SYNGAP1-Related Disorder (ICD-10 F78.A1; ICD-11 LD90.Y) is a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SynGAP protein levels. SRF has identified 1,454 patients to date, the number is growing 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 primarily neurological issues, including autism spectrum disorder, intellectual disability, epilepsy, hypotonia (low muscle tone), gross and fine motor delays, and visual abnormalities such as strabismus (crossed eyes) as well as gastrointestinal challenges and disordered sleep.

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 SynGAP research having committed over $6 million in grants. The founders cover operational costs, ensuring donations fund science & 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 SRD.

For more on SRF, visit curesyngap1.org or follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok, or X.

SRF is a member of FasterCures, COMBINEDbrain, Global Genes Foundation Alliance, Everylife Foundation Community Congress, Epilepsies Action Network, Personalized Medicine Coalition, Rare Epilepsy Network, Epilepsy Leadership Council, Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA), California Action Link for Rare Diseases, American Brain Coalition, Genetic Alliance UK, Rare Disease UK, Syndromes Without a Name (SWAN UK), Jumpstart Program, Patient Worthy, Autism Brain Net, Innovation and Value Initiative, Rare Disease Diversity Coalition, Cambridge Rare Disease Network, Breaking Down Barriers, Rare-X, Mencap, IndoUSRare, and The World Orphan Drug Congress.

END

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SynGAP Research Fund (SRF) increases support for SYNGAP1 organoid research at the University of Southern California’s Quadrato Lab SynGAP Research Fund (SRF) increases support for SYNGAP1 organoid research at the University of Southern California’s Quadrato Lab 2 SynGAP Research Fund (SRF) increases support for SYNGAP1 organoid research at the University of Southern California’s Quadrato Lab 3

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[Press-News.org] SynGAP Research Fund (SRF) increases support for SYNGAP1 organoid research at the University of Southern California’s Quadrato Lab