Dr. Joan C. Marini is Chief, Bone and Extracellular Matrix Branch of the NICHD. Dr. Marini has been at the NICHD since 1983 and is an expert in genetic disorders of bone in children. She created and leads the Program in Osteogenesis Imperfecta (also known as brittle bone disease), a fully interdigitated clinical and laboratory effort to determine the mutations causing OI and their mechanism of action. The program led by Dr. Marini has formulated the Regional Model for OI mutations, conducted controlled trials of bisphosphonates in OI children, generated the knock-in mouse model for non-lethal OI (the Brittle Mouse) and, most recently, led the successful identification of deficiency of components of the collagen 3-hydroxylation complex as causative of recessive OI.
Dr. Marini received a combined ScB/AB magna cum laude from Brown University, taking honors in both science and humanities concentrations. She completed an MD/PhD in physiological chemistry at the Johns Hopkins University School of Medicine as a trainee of the Medical Scientist Training Program. She obtained her pediatric training at Johns Hopkins and Georgetown, and completed her Clinical Genetics Fellowship in the InterInstitute Genetics Training program of the NIH. Dr. Marini has received numerous honors. She was a Margaret Morriss Scholar for four years at Brown University, where she was also elected to Phi Beta Kappa and Sigma Xi. At the NIH, Dr. Marini has twice received the NIH Director’s Award. She is a long-time member of the Medical Advisory Council of the OI Foundation, and a past president of the MAC.