Could a bone marrow transplant, including modified stem cells, provide a one-time treatment for SYNGAP1?
Credit: Syngap Research Fund
Could a bone marrow transplant, including modified stem cells, provide a one-time treatment for SYNGAP1?
The SynGAP Research Fund (SRF) announces a grant award to Dr. Joe Anderson, Associate Director of the UC Davis Gene Therapy Center and Associate Professor at the University of California, Davis. Based on the work described in Human Molecular Genetics, Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells, Dr. Anderson will test the same approach in an animal model of SYNGAP1 and evaluate for functional rescue of related phenotypes.
Dr. Anderson will be presenting a webinar for SynGAP Research Fund, Evaluation of a Stem Cell Gene Therapy Approach for SYNGAP1, on April 28th, 2022 at 10:00AM PST. Registration is available at SynGAP.Fund/Joe.
Dr. Anderson says, “For our current research, we will be evaluating whether a hematopoietic stem cell gene therapy approach is effective in rescuing phenotypes observed in an animal model of SYNGAP1. Based on the results we observed in our project for Angelman Syndrome, we are excited to apply this strategy to SynGAP as well. In our current proposal, we will be gene modifying blood-forming stem cells with a vector that expresses wild type and functional SYNGAP1. These cells will be transplanted in an animal model of SynGAP and be evaluated for rescue of SynGAP-related phenotypes. We will also be evaluating whether successful expression of SYNGAP1 can be detected in the brains of the transplanted animals. This work, if successful, will bring this therapeutic strategy closer to a clinical trial. We are currently evaluating a similar strategy for the treatment of other neurodevelopmental disorders.”
Michael Graglia, Managing Director of SRF says, “We watch leading rare disease groups closely to identify opportunities to help Syngapians. When the FAST-funded work was announced, we immediately sought to test it for SYNGAP1, just as RSRT is doing for Rett. We are forever grateful to our donors who make it possible for us to invest in the future of our loved ones today.”
SYNGAP1-related intellectual disability (ICD-10: F78.A1) is a rare genetic disorder caused by a variation on the SYNGAP1 gene, with over 1,000 diagnosed patients accounted for globally as of March 2022. It leads to several neurological issues in patients, including intellectual disability, epilepsy, autism, sleep challenges, gastro-intestinal and feeding problems, hypotonia (low muscle tone), apraxia (delayed/no speech), impulsivity and aggression.
ABOUT SYNGAP RESEARCH FUND
SRF, incorporated in 2018, is a 501(c)(3) public charity whose mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems. Completely parent-led, SRF is the largest non-government funder of SynGAP research having committed over $2.0M in grants. The founders cover all operational costs, allowing 100% of donations to go to research. SRF’s grant program awards one or two-year grants to young investigators, physician residents, and clinicians who are interested in studying SYNGAP1. SRF grants are intended to help researchers explore novel ideas and answer questions related to the clinical aspects, therapies and/or genetic causes of SYNGAP1. SRF is a member of the Personalized Medicine Coalition, COMBINEDbrain, Global Genes Foundation Alliance, the Everylife Foundation Community Congress, Rare Epilepsy Network, and Epilepsy Leadership Council.
To learn more, visit SyngapResearchFund.org.
ABOUT THE ANDERSON LAB
Dr. Anderson has been in the field of stem cell gene therapy for the past 20 years and has developed numerous therapeutic lentiviral vectors for HIV, Tay-Sachs/Sandhoff disease, and Angelman syndrome and has evaluated their safety and efficacy both in vitro and in vivo in adult and pluripotent stem cells. He performed the in vivo safety/efficacy data for the current pre-selective anti-HIV lentiviral vector being used in a Phase I clinical trial for HIV-lymphoma patients. He has also developed stem cell gene therapies for both Tay-Sachs/Sandhoff disease and Angelman syndrome that are currently in the IND-enabling experiment stage. Dr. Anderson has successfully written, submitted, andreceived approval of NIH RAC, pre-IND, and IND applications for his HIV stem cell gene therapy work.
To learn more, visit genetherapy.ucdavis.edu.
Contact:
Peter Halliburton, SRF Development Director