From Bench T0 Bedside And Back

Sukanya Charuchandra /PublishedSummer 2018

Virginie McNamar often watches her nearly 3-year-old son, Tyler, run around the darkened basement playroom. She isn't sure why he prefers the lights switched off. Neither are his doctors at Kennedy Krieger Institute, a Johns Hopkins partner that helps children with developmental disabilities. They don't know why the sight of a trash bag or the sound of a toilet flush upsets him. This sensory sensitivity is possibly one indication of his mutated SYNGAP1 gene, and he's one of a couple of hundred known cases.

When Tyler was diagnosed at 16 months, it was hard for his mother when she realized how little science knew about the condition. They traveled from their Indiana home to meet doctors at Kennedy Krieger who were familiar with the mutation responsible for Tyler's sensory processing disorder, low muscle tone, and developmental delay. When a group of roughly 20 SYNGAP1 families met up in Baltimore last fall and visited Richard Huganir's lab at Johns Hopkins, McNamar was able to see tangible evidence for her son's difficulties: the SynGAP protein—a product of the SYNGAP1 gene—glowing green under a microscope. "I felt like I wasn't alone anymore," says McNamar, reassured that scientists were addressing the problem.

Read the rest of the article here: https://hub.jhu.edu/magazine/2018/summer/syngap1-mutation-intellectual-disability/