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SYNGAP1 Research and Education Consortiums

Mission Statement

The purpose of this giving circle is to secure financial support for the SYNGAP1 research and education conferences.

De novo, pathogenic SYNGAP1 mutations cause a form of non-syndromic intellectual disability (ID) with epilepsy (MIM#: 612621; MRD5; Symptoms of MRD5 include cognitive impairment, severely impaired expressive and receptive language, and epilepsy. MRD5 individuals are also frequently diagnosed with autism spectrum disorder and attention deficit hyperactivity disorder. Importantly, most patients (~80%) are diagnosed with some form of comorbid excitability disorder. These mutations are surprisingly common, with the incidence reported as 1-4/10,000 individuals, or approximately 1-2% of all cases, making it one of the most common causes of ID with epilepsy.

For this reason, it is important to have researchers familiar with the MRD5 clinical syndrome, SynGAP neurobiology, and eminent scientists who study neurodevelopmental disorders, come together to discuss this emerging neuropsychiatric disorder. Their intimate knowledge of the disorder will be an essential element of the meeting, which will help drive new ideas toward a better understanding the disorder and to promote the development of novel therapies.

Funding will aid in our ability to have presentations from a diverse array of well-known speakers covering topics such as SynGAP biology, neurobiology underlying related brain disorders, translational strategies in RASopathies, and medications development. It will also create opportunities for junior investigators, postdoctoral and clinical fellows, as well as graduate students to participate in the scientific exchange.

The key objective of this proposal is to obtain funds to support the on SYNGAP1-related disorders. There are several goals for this meeting:

(1) To bring together internationally-recognized basic scientists and clinicians interested in the function of SynGAP protein, the disease substrates underlying the disorder, and developing novel therapies for rare genetic disorders.

(2) To further the understanding of SYNGAP1 in normal brain function and to develop a consensus on the most effective avenues toward novel treatments.

(3) To expand the SYNGAP1 research and clinical community, including the introduction of junior scientists and clinicians, postdoctoral and clinical fellows and graduate students to the importance of studying this and related rare diseases.

(4) To grow the emerging international SYNGAP1 research and clinical network in an effort to foster fully collaborative multi-laboratory basic research, to enhance participation in the already-existing MRD5 patient registry, and to catalyze a natural history study in order to advance patient care and treatment.





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