CHOP medical geneticist and researcher Ian Krantz, MD, has been a tireless detective in his efforts to find out what genetic syndrome could be behind Leta’s constellation of symptoms.
Tag Archive: gene sequencing
Genetics experts at The Children’s Hospital of Philadelphia have developed a unique test to characterize the genes that encode HLA molecules.
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.