Scientists are driving new discoveries about the role of genetic variation in specific human disorders at an exciting and unprecedented pace, and physicians are increasingly incorporating genetic tests into pediatric clinics as a diagnostic tool. But with high-throughput sequencing methods continuously yielding floods of new information, how can clinicians keep up with updated data for patients who have already received genetic test results?
Tag Archive: DNA
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. Mitochondria contain their own DNA, and play a pivotal role in human health and disease.