Recent work by a mitochondrial medicine pioneer from The Children’s Hospital of Philadelphia details how subtle changes in mitochondrial function may cause a broad range of common metabolic and degenerative diseases.
High is one of the world’s leading experts in gene therapy, which has long been a “next big thing” in medicine: Take a person with a devastating genetic disease and replace their nonfunctional gene with a normal one — a cure built right into your DNA.
Since the completion of the Human Genome Project, there has been a natural surge in biomedical research aimed at gene discovery. Using genome-wide association studies (GWAS), bioinformatics, and other approaches, this process has focused largely on determining what genes are implicated in specific diseases.
A team led by CHOP's Marni J. Falk, MD, has expanded next-generation gene tools designed to sequence nuclear DNA to analyze a separate source of DNA - that found within mitochondria. Mitochondria are key suppliers of the energy needed for the multiple functions of our cells.
