See official press release here.
Grant will fund proof-of-principle and proof-of-concept for a technology that can enhance the expression of the normal, unaffected SYNGAP1 gene, by increasing its messenger RNA’s potency
PALO ALTO, Calif. (Oct. 04, 2022) – SynGAP Research Fund (SRF), a 501(c)(3) public charity whose mission is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies and support systems, along with Wandoan Campdraft and Soley for SYNGAP1, today announced they have awarded a $130,000 grant to Johns Hopkins University to advance preclinical work on its mRNA Amplifier. In early vitro studies, the technology is shown to enhance the expression of the normal, unaffected gene, by increasing its messenger RNA’s potency. Additional funding for the project was generously contributed by Leon & Friends, an Austrian SYNGAP1 patient group.
Jeff Coller, PhD, Bloomberg Distinguished Professor of RNA Biology and Therapeutics at the Johns Hopkins University School of Medicine, will serve as principal investigator.
In preliminary work, Coller’s team has developed a novel therapeutic candidate for SYNGAP1 haploinsufficiency by leveraging messenger RNA biology (mRNA), which improves the expression of the normal SYNGAP1 mRNA. This is done using an “mRNA Amplifier,” which binds to SYNGAP1 mRNA to enhance the normal transcript’s translation, doubling protein output.
“We are at such an exciting time in the research and development of treatments and therapies for genetic diseases like SYNGAP1,” said Michael Graglia, Managing Director of SRF. “At SRF, we are committed to funding work – like what’s underway at the Coller Lab – that gets us closer to a treatment for SYNGAP1 patients. It’s especially compelling when labs have established relationships with biotechs in the space, as Prof. Coller does.”
SYNGAP1-related intellectual disability (ICD-10 F78.A1) is a rare genetic disorder caused by a variant on the SYNGAP1 gene, which is located on Chromosome 6 and responsible for producing the SynGAP protein. This protein acts as a regulator in the synapses (where neurons communicate with each other). A variant of the SYNGAP1 gene leads to the gene not producing enough SynGAP protein; without the right amount, 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.
The first year will be hallmarked by critical in vitro development of the mRNA Amplifier in the treatment
of SYNGAP1 haploinsufficiency, looking for any cytotoxicity associated with the mRNA Amplifier system. The second year will move into proof-of-concept experiments using animal models.
“The initial findings of Dr. Coller’s work are very promising,” said Sophie Mahlo, founder of Soley for SYNGAP1, a German SYNGAP1 foundation. “His lab uses a technology that is mutation agnostic. That means he could help a large number of patients living with SYNGAP no matter their variant, and hopefully even other haploinsufficiency disorders. Findings emerging from this project could improve the lives of countless children and their families.”
Graglia continued, “Today’s announcement gives hope to the many families and patients with a SYNGAP diagnosis, and those yet to be diagnosed. We are closer today to a treatment than we were yesterday, and we will continue getting closer until one day this disease can be cured.” Prof. Coller will be speaking at the upcoming SRF meeting on December 1, 2022 in Nashville, TN. Clinicians and researchers can register for the event via Syngap.Fund/Treat.
SRF, incorporated in the US in 2018, is a 501(c)(3) public charity whose mission is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies and support systems. Families created sister organizations for SRF in the UK in 2020 and in Europe (Netherlands) in 2022. Completely parent-led, SRF is the largest non-government funder of SynGAP research having committed over $3M 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.
The Campdraft for a Cure event emerged when the Webster family’s daughter Gracie was officially diagnosed with SYNGAP1. Four friends decided to create an organization (Somerset Campdraft Association) to hold a fundraising event in the hopes of bringing much needed awareness & raising funds to support the quest for treatments to the rare disorder. Campdraft for a Cure reached thousands of social media followers in the lead up to the event, and created prominent awareness for SYNGAP1 & epilepsy related disorders alike. The event was held in the small town community of Wandoan, Queensland, and attracted hundreds of supporters from all across Australia.
Campdraft for a Cure is associated with Syngap Research Fund Australia who advocate for, connect and support SynGAP families and enable SynGAP research. They have been advocating for SynGAP and campaigning for funds in Australia since 2016 and strongly believe precision medicine will deliver viable therapeutic approaches for SynGAP. Syngap Research Fund Australia are proud to be associated with Campdraft for a Cure to accelerate the progress of this mission. Visit SyngapAustralia.org
Soley for Syngap1 is a German non for profit organization based in Berlin with the aim to facilitate treatment targeted research on Syngap.