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Event Category: Disease Awareness EventsEvent Tags: Rare Giving Tuesday February 28, 2017, and FU

  • Our goal is to accelerate research to develop evidence-based therapeutics for the treatment and long-term cure for synaptic Ras-GTPase activating protein (SYNGAP1). A primary clinical challenge for SYNGAP1 patients is the management of retractable seizures. Early detection and intervention would prevent the detrimental effects of seizures that can damage neural connections and elevate symptoms that come from having SYNGAP1 mutations.
    Secondly, is to raise awareness of SYNGAP1 (MRD5) and unite patient families. Our goals of creating a standard of care and educating researchers/medical professionals will improve time to early diagnosis. With guidance from our scientific advisory board our goal is to creating a behavior/medical profile for clinicians. This tool will also accelerate identification of other SYNGAP1 individuals. It is crucial that an early diagnosis is made as we have seen that early therapy can be incredibly valuable to the development of our special children. Lastly, we aim to educate families and clinicians with data collected from our Natural History study to create customized treatment plans that can result in the best outcomes for progress made by each child.

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