This past year, Rob Burgess, PhD, a Jackson Laboratory scientist and Director of its Center for Precision Genetics, developed a mouse model specific to Caroline’s GARS mutation. Dr. Burgess worked with his partner Scott Harper, PhD, at Nationwide Children’s Hospital in Columbus, OH to develop a gene therapy, which in preclinical animal studies, showed it may be effective in her treatment. While it is specifically tailored to Caroline’s unique gene mutation and can only be applied to her, the precedent established by this approach could be applied to many other gene mutations that cause other dominant diseases including: inherited peripheral neuropathies, other muscular dystrophies and motor neuron diseases such as Amyotrophic Lateral Sclerosis (ALS).
Right now, individual philanthropy is needed for formal toxicology studies that are necessary for the FDA’s approval of an investigative new drug (IND) application, for vector (Virus) production, and for a clinical trial. Once the IND application process is started, the timeline moves from years to months. The clinical trial is a giant step for Caroline and will lower the bar for all future applications of this gene therapy strategy and help patients in years to come.
Thank you for your generous support.
To learn more, please visit the Center for Precision Genetics.