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A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death. We are using a combination of gene therapy, stem cells and small molecules to restore metabolic defects in the patient s brain cells says Dr. Alexey Pshezhetsky, Professor at CHU Ste-Justine and lead GlycoNet Investigator on this project. First results in the mouse models of the disease are very encouraging.
Sanfilippo syndrome belongs to a group of rare diseases known as lysosomal storage disorders.