The Foundation is thrilled to announce its two-year award to fund a postdoctoral fellowship: Gene Therapy for Sanfilippo Syndrome at the Research Institute for Children’s Health at Case Western Reserve University in Cleveland, Ohio, under the leadership of Dr. Mitchell Drumm.
Dr. Drumm earned his doctoral degree in the laboratory of Francis Collins, M.D., PhD, with whom he co-discovered the gene that causes cystic fibrosis (CF). Dr. Drumm has been involved in the therapeutic development processes for cystic fibrosis ever since and in 2015 launched the Research Institute for Children’s Health with the philosophy that one take the successful strategies learned in CF and apply them to other genetic disorders, moving more quickly and efficiently by not reinventing the wheel. Dr. Drumm is excited to engage in gene therapy for Sanfilippo because of the transformative changes in genetic therapy technology now available. His lab and colleagues have developed a pipeline approach to move therapeutics to the clinic in other rare, genetic disorders using gene-based therapies.
Dr. Drumm’s implementation of laboratory-to-clinic research programs for rare, genetic disorders patterned after the CF approach is exciting and now provides a fresh look at gene therapy for Sanfilippo, revitalizing hope for families and children afflicted.
Dr. Drumm has described for us that his laboratory has created mouse models that allow easier and stronger detection of successful steps in the gene therapy process. He says that current technologies don’t allow us to look for the enzyme in individual cells of the body, or how long it lasts. The cells of the mice they’ve developed actually light up if the gene therapy approach reaches them, making them straightforward to find. Dr. Drumm explains “Our mice, that let us see where the gene therapy particles go, how many cells they enter, and how long they last, will provide a guide when we compare different gene therapy approaches in the Sanfilippo mouse that the Foundation had the foresight to fund. We have teamed up with AAV gene therapy experts as the first approach we will try, but are set up to evaluate any system one wishes to try, or even combinations of systems. The support from the Foundation will allow a talented postdoctoral fellow in my lab, Karen Schelde, PhD, who has extensive experience with mice in this regard, to test the gene therapy strategies.” Dr. Drumm is very excited for his lab to work on Sanfilippo. “Quite simply, this is why the Research Institute for Children’s Health exists,” he says. “Our researchers may be scientists, but they are also parents.”