What is a Biomarker?

Biomarkers are ways to objectively measure disease severity to better understand how a potential therapy may be helping. A biomarker may be a measurable substance such as the substrate accumulated in the disease or it may be imaging that shows disease improvement.

What is the Current Status of Biomarker Studies?

Efforts are ongoing to develop a disease severity scoring system for Tay-Sachs, Sandhoff and GM-1 based on MRI images. Researchers are comparing MRI images with function level to correlate the images with disease severity. Many MRI images are needed to develop this biomarker. If your child has had an MRI, even before diagnosis, please consider providing a copy for the study. Contact the office at (617) 277-4463 or This email address is being protected from spambots. You need JavaScript enabled to view it. to learn more.

What are the Challenges of Biomarker Studies?

Developing a clear way to measure disease severity is difficult. Biochemical analyses of enzyme or substrate levels are rarely sensitive enough to be informative biomakers. An MRI scoring system has wonderful potential to provide a non-invasive and effective way to measure disease severity, but many MRIs of affected children are needed to develop a meaningful system.