Grant fuels research into SYNGAP1-linked behavioral abnormalities

Building on previous discoveries that SYNGAP1 protein localizes to both primary and motile cilia, the research will use rodent models to investigate the link between SYNGAP1 protein deficiency, cilia dysfunction, and the diverse clinical symptoms seen in SRD patients, including intellectual disability, gastrointestinal issues, and behavioral changes. The work spans analysis from subcellular ciliary phenotyping to behavioral characterization in genetically modified rats with two different alterations to the Syngap1 gene. Investigation and analysis will be done with an eye towards informing rational drug design.

Why we supported this project

Past work by Dr. Helen Willsey

Powerful story of partnership

What the team is saying

Family donations make progress possible

Suzanne Jones, Chair of the CURE SYNGAP1 Board of TrusteesResearch like Dr. Willsey's is exactly what our community needs right now. It's focused on solving the everyday challenges families face and offers real hope for improving quality of life. This work shows the impact we can have when science and community support come together."

Source:

CURE SYNGAP1