CURESHANK SEEKS researchers to study SHANK3-related epilepsy: $250,000 in grant AWARDS
On December 1, 2023, CureSHANK announced its Request for Applications (RFA) for the CureSHANK Research-to-Cure Grant: Epilepsy. This is a request for researchers to submit applications for funding from the $250,000 CureSHANK has committed to study SHANK3-related epilepsy in Phelan-McDermid syndrome (PMS). CureSHANK intends to grant awards to two or more research proposals.
The Phelan-McDermid syndrome community lives under the long shadow of epilepsy: it is responsible for many of the deaths of both children and young adults with PMS, and it is one of the disorder's most distressing symptoms.
Much is still not understood about the strong connection between deletions and variants of the SHANK3 gene (the cause of Phelan-McDermid syndrome) and epilepsy. Research has historically been more focused on other common PMS symptoms such as autism and intellectual disability.
With these research grants, CureSHANK aims to stimulate research that will ultimately enable the development of treatments for SHANK3-related epilepsy.
To conceptualize the types of research projects with the most promise to accelerate treatments, CureSHANK convened a meeting of experts on Phelan-McDermid syndrome-related epilepsy at Boston Children’s Hospital Brain Mind Behavior Center on September 27 for a ground-breaking conference: “Defining a Roadmap for SHANK3-related Epilepsy Research”. The meeting was jointly hosted by the Rare Diseases Clinical Research Network (RDCRN) Developmental Synaptopathies Consortium and the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s.
After hearing families describe their experiences with SHANK3-related epilepsy, the researchers collaborated to identify gaps, needs, and challenges in both clinical and basic science. They then developed a set of research priorities and recommendations, which is currently being transposed into a white paper.
To understand the high level of unmet need in the area of epilepsy in Phelan-McDermid syndrome, watch Ethan’s Story and Avenly’s Story, which we shared during our May 2023 “Raising for Research” Fundraiser, during which we raised funds for this research grant.
