Mark Hughes MD, PhD

Professor Mark Hughes graduated in Biology and Chemistry from St. Johns University followed by a Masters in Biophysics at Stanford University and a Ph.D. in Molecular Biochemistry at the University of Arizona Medical Center. He continued his training at the Baylor College of Medicine in Houston as a postdoctoral fellow with Bert O’Malley, where his pivotal work was published in Science and Nature and involved the cloning of the vitamin D and progesterone receptors and characterization of the first mutations found in human gene transcription factors. Mutations in the “tips” of zinc fingers of the vitamin D receptor were identified in the DNA of patients with rickets.

These were the first mutations identified in any human gene transcription factor. Following this training Hughes completed his M.D. at Baylor, followed by house staff training in Internal Medicine and clinical subspecialty training at Duke University. He then returned as junior faculty to Baylor’s newly formed Genetics Institute led by Thomas Caskey and Arthur Beaudet. Among his accomplishments was the realization that single cells could be molecularly data mined for diagnostic advantage: This led to a multi-year collaboration with reproductive endocrinologists and embryologists at the Hammersmith and UCLondon; the field of Preimplantation Genetic Diagnosis was born. In 1993 Hughes' research was recognized by Science magazine as being one of the "ten most significant advances" in all of science that year; spanning all the physical, biological and mathematical sciences for that year.