10/24/2024
Congratulations to Dr. Michele Jacob for receiving an Oxford-Harrington Rare Disease Scholar Award. These inaugural awards support breakthrough treatments for rare diseases across neurologic, oncologic, and metabolic disease areas.
The award will advance the efforts of Dr. Jacob and colleagues to develop an efficacious treatment for CTNNB1 syndrome, a rare neurodevelopmental disorder linked with motor and intellectual disabilities and some forms of autism, that currently lacks treatment options.
Their team’s latest findings, published in EMBO Molecular Medicine, provide the first evidence that an efficacious drug treatment can be developed to potentially mitigate and even reverse the cognitive and motor symptoms of the disorder.
Learn more about their research on CTNNB1:
Researchers at Tufts University School of Medicine and the Graduate School of Biomedical Sciences (GSBS) have identified a small molecule that, in mouse and human cell models, rectifies the underlying molecular cause of a rare genetic developmental disorder linked with motor and intellectual disabil...