Daniel Guthrie Miller, MD, PhD

He is interested in the molecular pathophysiology of Facioscapulohumeral Muscular Dystrophy and collaborates with a group of Scientists located around the world to perform studies that will determine the molecular events that cause muscle weakness in this dominantly inherited adult-onset disease. Miller also uses gene therapy strategies to study and treat human genetic diseases. He constructs vectors based on retroviruses that deliver an entire copy of the gene to patient cells for “gene replacement” therapies, and vectors based on adeno-associated virus (AAV) that pair with chromosomal sequences facilitating “gene repair” by homologous recombination. Using these techniques, he is able to modify primary human cell lines to repair of specific mutations that cause human diseases, or generate mutations similar to those causing inherited disease in patients to study the cellular effects of such mutations. Miller sees patients with genetic conditions in the Medical Genetics Clinic.