Neuroscience Professor and HHMI Investigator Ed Chapman and MD/PhD student Mazdak Bradberry were recently highlighted on the Howard Hughes Medical Institute website for their investigation of Syt1-associated neurodevelopmental disorder – a rare condition that can cause developmental delays, eye abnormalities, involuntary movements, and agitation.
Chapman and Bradberry’s research led to the discovery that the altered syt1 protein became less responsive to calcium.
“That made us think that if there was some way we could enhance calcium signaling, we might be able to help compensate for the protein’s defects,” Bradberry said.
The duo turned to a current drug on the market, known as 4-AP, which is already approved to treat the disorder multiple sclerosis. Because 4-AP prompts a greater-than-normal influx of calcium into neurons, Bradberry suspected it could help patients with SYT1 mutations.
“Behaviors seen in this condition, like self-injurious hitting, impact patients’ and caregivers’ lives, and it’s possible these could be addressed by whatever treatment we are able to offer.” – Bradberry
“If it brings any relief at all, it will be incredibly satisfying for us,” said Chapman.
For the full article, click the link here: https://www.hhmi.org/news/molecular-basis-of-rare-neurological-disorder-reveals-potential-treatment
Congratulations, Ed and Maz!