Site Personnel
Rachel I. Gafni, MD - Principal Investigator
Rachel I. Gafni, MD is a staff clinician and clinical investigator in the Craniofacial and Skeletal Diseases Branch of the National Institute of Dental and Craniofacial Research (NIDCR) at the National Institutes of Health (NIH). She also serves as faculty in the Pediatric Endocrinology Training Program at the NIH. Dr. Gafni received her medical degree in 1992 from Temple University School of Medicine and completed a pediatric residency at the Children's Hospital of Philadelphia. She came to the National Institute of Child Health and Human Development, NIH, in 1996 as a Pediatric Endocrinology Fellow and a commissioned officer in the Public Health Service, studying mechanisms of catch-up growth and juvenile osteoporosis. From 2002 to 2007, she served as a Clinical Assistant Professor at the University of Maryland during which time she continued to work as a contractor with the National Cancer Institute, NIH, studying the effects of tenofovir on bone density in HIV-infected children. Dr. Gafni returned to the NIH full-time in October 2007 to join the Skeletal Clinical Studies Unit in NIDCR. She is board- certified in Pediatrics/Pediatric Endocrinology and is an investigator on several NIH protocols treating patients with endocrine disorders including hypoparathyroidism, McCune-Albright Syndrome, and other metabolic bone diseases. Her primary research interests include investigations into the molecular mechanisms, diagnosis, and treatment of calcium, phosphorus, and skeletal disorders.
Stephen J. Marx, MD - Lead Associate Investigator
Stephen J. Marx, MD is the as Chief of the Metabolic Diseases Branch, and Chief of its Genetics & Endocrinology Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at the National Institutes of Health(NIH). He received a BA degree from Yale University and attended medical school at Johns Hopkins. He spent 3 years on medical house staff at Massachusetts General Hospital. He lectures widely and is on the Core faculty of the NIH Interinstitute Endocrinology Training Program. He has had about 350 peer-reviewed publications. He has made many contributions in topics of calciotropic hormones, particularly genetic disorders of calcium metabolism. He developed the first radioligand analysis of a calcitropic receptor (calcitonin receptor) and characterized the syndrome of hereditary resistance to calcitriol, including its molecular and genetic defects of vitamin D nuclear receptors. He characterized familial forms of hyperparathyroidism. He is pursuing clinical and basic studies of parathyroid and other endocrine hyperfunctions.
Lori C. Guthrie RN-C, BSN, CCRC - Associate Investigator
Lori C. Guthrie RN-C, BSN, CCRC is a research nurse specialist for the National Institute of Dental and Craniofacial Research (NIDCR) at the National Institutes of Health (NIH). She received her BS in Nursing from George Mason University in Fairfax, Virginia and began her career at the NIH in 1988 with a primary focus on clinical research. She is a Certified Clinical Research Coordinator. During the last 15 years her work has focused on pediatric and adult research trials in endocrinology and rheumatology. Since joining NIDCR in 2011, she has focused on pediatric and adult clinical trials related to rare bone diseases. Patient populations within this area have included Fibrous dysplasia, McCune-Albright Syndrome, hypoparathyroidism and tumor-induced osteomalacia.
Beth A. Brillante, BSN, MBA - Associate Investigator
Beth A. Brillante, BSN, MBA is a part-time Research Nurse Specialist for the National Institute of Dental and Craniofacial Research (NIDCR) at the National Institutes of Health (NIH). She received her BSN in Nursing from Temple University in 1989 and began her career as a pediatric staff nurse for the National Cancer Institute, National Institutes of Health (NIH). In 2002 she earned an MBA from the University of Baltimore, Baltimore, MD. Ms. Brillante has continued her work at NIH since 1989 with a primary focus on clinical research. During the last 10 years her work has focused on pediatric and adult clinical trials related to rare bone diseases. Patient populations within this realm have included Fibrous dysplasia, McCune-Albright Syndrome, hypoparathyroidism and tumor induced osteomalacia.