The thirteenth international Rare Disease Day will be February 29, 2020. In recognition, SyngapResearch Fund (SRF), a 501(c)(3) non-profit, laser-focused on accelerating treatments for SynGAP1 genetic mutation, is fundraising $50,000 toward an organoid project (as part of our greater goal of raising $3-5M toward treatment). This fundraising effort will directly support the work of Dr. Giorgia Quadrato, and Dr. Marcelo Coba, at the Keck School of Medicine of USC.
SynGAP1-related intellectual disability is a rare genetic disorder caused by a mutation on the SYNGAP1 gene, with approximately 500 diagnosed patients accounted for globally. It leads to several neurological issues in Syngap patients, including mild-to-severe intellectual disability, epilepsy, autism, hypotonia (low muscle tone), apraxia (delayed/no speech) and impulsivity/aggression.
Intellectual disability, which affects more than 6.5 million people in the U.S. alone, is linked to complex genetic variations and mutations. The SynGAP1 gene mutation causes a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. Due to the complexities of the brain and the disorder itself, there has been very little progress in translating this knowledge of human genetics into coherent physiological models that can be used to reveal novel targets and accelerate treatment.
Drs. Quadrato and Coba are harnessing a promising approach to overcome these challenges by using patient-derived human brain organoids generated from stem cells. Organoids are complex, 3D structures that exhibit human-specific qualities much more accurately than the alternative research strategy, mouse models. They can be thought of as miniature brains in test tubes that react in ways very similar to actual human brains, thereby allowing Dr. Coba and Dr. Quadrato’s teams to conduct “clinical trials” of potential treatments in petri dishes quickly and safely.
Read the SRF blog about Dr. Coba here.
About SynGAP Research Fund (SRF): SRF is a 501(c)(3) non-profit organization and was incorporated in 2018 to improve the quality of life of SynGAP1 patients through the research and development of treatments, therapies and support systems. SRF is the largest non-government funder of Syngap research and operates under our core pillars of Collaboration, Transparency & Urgency. Our founders cover all overhead, so 100% of donations go directly to research.
Thank you for your support!