Scripps Florida Scientists Awarded $2 Million to Develop Industrial Level' Screening for Treatments of Autism-Related Intellectual Disability JUPITER, FL July 5, 2017 A team of scientists from the Florida campus of The Scripps Research Institute (TSRI) have been awarded nearly $2 million from the National Institute of Mental Health of the National Institutes of Health to develop an industrial level' high throughput screening platform that could lead to new treatments for a number of childhood brain disorders.
The three-year-grant will be overseen by Gavin Rumbaugh, a TSRI associate professor in the Department of Neuroscience, and Associate Professor Louis Scampavia and Assistant Professor Timothy Spicer, co-directors of the campus' High Throughput Screening facility.
Over the past several years, the three scientists have worked as a collaborative group to create a cost-effective screening platform that can support medium-scale screening in neuronal networks. The new grant will allow them to optimize their current efforts to support screening campaigns of a much larger scale, which is expected to increase the chances of a successful screen.
The scientists are focused on mutations in the Syngap1 gene that can damage development of specific types of neurons in the brain and lead to intellectual disability. Problems with higher cognitive processes, such as language, reasoning and memory arise in children with these mutations.
These rare genetic brain disorders offer the greatest potential for new therapeutics because the disease mechanism is generally straight forward basically low expression of a single protein in this case.
To improve conditions in these patients, the most rational strategy is to treat them with magic bullet' compounds that replace those missing functional proteins, Rumbaugh said. However, searching for the right compounds can only be done in neurons because this gene is not expressed well outside the brain.
Currently, ultra high-throughput screening, where tens-of-thousands of compounds are tested, is not easily performed in neurons, Rumbaugh noted.
This grant will help support new technologies that will streamline screening in neurons, he said. One added benefit of this project is that it's expected to stimulate the creation of screening assays for other brain disorders.
Earlier studies done by the Rumbaugh lab demonstrated that if Syngap1 protein expression can be fixed by a form of gene therapy in an animal model, then neuronal function and intellectual ability in the animal model were also fixed.
Unfortunately, this type of gene therapy is not yet feasible in humans. However, animal studies suggest that identification of Syngap1-regulating compounds by ultra high-throughput screening may lead to therapies that target the disease mechanism in this genetic disorder.
Damaging mutations in Syngap1 that reduce the number of functional proteins are one of the most common causes of sporadic intellectual disability and are associated with schizophrenia and autism spectrum disorder. Some estimates suggest that these non-inherited genetic mutations account for two to eight percent of these intellectual disability cases.
The number of the grant is 1R01MH113648-01
About The Scripps Research Institute
The Scripps Research Institute (TSRI) is one of the worlds largest independent, not-for-profit organizations focusing on research in the biomedical sciences. TSRI is internationally recognized for its contributions to science and health, including its role in laying the foundation for new treatments for cancer, rheumatoid arthritis, hemophilia, and other diseases. An institution that evolved from the Scripps Metabolic Clinic founded by philanthropist Ellen Browning Scripps in 1924, the institute now employs more than 2,500 people on its campuses in La Jolla, CA, and Jupiter, FL, where its renowned scientists including two Nobel laureates and 20 members of the National Academies of Science, Engineering or Medicine work toward their next discoveries. The institutes graduate program, which awards PhD degrees in biology and chemistry, ranks among the top ten of its kind in the nation. In October 2016, TSRI announced a strategic affiliation with the California Institute for Biomedical Research (Calibr), representing a renewed commitment to the discovery and development of new medicines to address unmet medical needs. For more information, see www.scripps.edu.
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For information:
Office of Communications
Tel: 858-784-2666
Fax: 858-784-8118
press@scripps.edu
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Scripps Florida Scientists Awarded $2 Million to Develop Industrial Level' Screening for Treatments of Autism-Related Intellectual Disability JUPITER, FL July 5, 2017 A team of scientists from the Florida campus of The Scripps Research Institute (TSRI) have been awarded nearly $2 million from the National Institute of Mental Health of the National Institutes of Health to develop an industrial level' high throughput screening platform that could lead to new treatments for a number of childhood brain disorders.
