Medical genetics and precision medicine are the new frontiers for finding ways to help people live longer, healthier lives. Medical institutions worldwide are beginning to add a genetic dimension to their research into diseases that affect us all—from SIDS to dementia, and also into the “rare” diseases that may not be so rare after all. According to Science Magazine, one in five healthy adults may carry disease-related genetic mutations.
Here at CADASIL Eradication Project, we focus on the Notch3 gene and its relationship to the most common hereditary stroke disorder, CADASIL. Our goal is to support research into Notch3 that will lead to a better understanding of how Notch3 mutations lead to diseases like CADASIL. This takes a lot of hard work, but that work is a necessary step to opening the doors to genetic-based cures for CADASIL and other genetic diseases like it.
Today I am happy to report that the Starita Lab at the Brotman-Baty Institute has used grant money from CEP to hire on a new research associate focusing specifically on Notch3 analysis. His name is Nahum Smith, and he will be developing functional assays for Notch3 to determine how mutations affect the ability of the protein to get to the cell surface and activate signaling.
Nahum is learning many new molecular biology skills through this project, which will help him figure out what direction to take his career. The more he learns about CADASIL, the more motivated he is to work on the project.
It is only through the kindness and generosity of supporters like you that we can enable this meaningful of work.
Thank you!