Staff

Dr. Carpenter has maintained a career-long involvement in metabolic bone diseases in children. He currently serves as director of the Yale Center for X-linked Hypophosphatemia (XLH) and as the Medical Director of the Yale Center for Clinical Investigation's Hospital Research Unit. His research interests center on the pathophysiology and development of therapy for XLH, the most common inherited form of rickets. He also has a major interest in the metabolism and function of vitamin D, and disorders related to vitamin D in children. He has published over 200 articles, reviews and chapters with a focus of metabolic bone diseases in children, and is currently an Associate Editor of the Journal of Bone and Mineral Research.

Dr. Karl Insogna is a tenured Professor at Yale and an internationally recognized expert in the field of metabolic bone disease. He has published widely on the topic in the field's leading scientific journals, is quoted often in the lay press, and has frequently appeared on radio and television. He is a Fellow of the American Association for the Advancement of Science, and was a member of the National Institutes of Health Consensus Conference, which established new recommendations for the optimal level of calcium intake for all Americans - now adopted nationwide. He is a leading researcher in the causes of bone loss in such diseases as osteoporosis and primary hyperparathyroidism, and is currently conducting studies in, among other areas, the role of diet in the development of osteoporosis.

Clemens W.H. Bergwitz, MD, is an endocrinologist and Associate Professor of Medicine. In 2006, he identified the genetic defect underlying the childhood disorder Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH), and since then, he has developed a research focus on inborn errors of bone and mineral metabolism. He leads several clinical trials and his lab uses murine models of hypophosphatemia to understand better the responses of the musculoskeletal and renal systems to oral phosphate therapy. Using genome-wide RNAi screens, a more recent research interest is in trying to understand how human and other metazoan cells sense inorganic phosphate and to identify mammalian systems suitable to study identified hits. He also attends the Endocrine Consult Service at Yale New Haven Hospital and, as a member of the Yale Medical Group, sees outpatients with hypophosphatemic disorders, osteoporosis, primary hyperparathyroidism, hyperthyroidism, thyroid nodules, hypogonadism, adrenal, and general endocrine disorders.

Carol’s research career took various turns and pauses in places near and far, but she eventually joined the team at the Yale Center for XLH in 2015. Her role as the Center’s clinical trial coordinator for the adult phase 3 clinical trials of burosumab was instrumental in the drug’s approval. Her work with XLH and TIO patients continues to be rewarding and informative, and she contributes in large part to the disease monitoring programs for these disorders. Carol is committed to the ongoing research for XLH and other bone disorders in the hope of improving the lives of her patients.

Holly Lowe joined the Yale Center for XLH staff in November 2016 as a temporary employee to fill in during a maternity leave. This was a post-retirement job for her after teaching middle school social studies for 20 years. Holly’s temp status was extended for a few months to provide additional administrative support preparing for an inspection by the European equivalent of the FDA. In June of 2017 she was hired as a regular employee of the Center. Holly performs the administrative activities for all the Center’s Ultragenyx studies carried out by Dr. Thomas Carpenter and Dr. Karl Insogna.

After recently graduating from Colgate University as a neuroscience major, Sinéad joined the Yale Center for XLH as a research assistant in November 2022. She has had many experiences with bench/lab and animal research thus far in her career and is now excited to connect with participants and help make a positive difference in their lives doing clinical work.

Elizabeth Olear is the Senior Clinical Research Associate at the Yale Center for XLH in the division of Pediatric Endocrinology at Yale School of Medicine. She leads a team conducting clinical trials in rare bone metabolism and research involving long-term sequelae of these disorders. She has been at Yale for over 16 years and has been actively involved in the research efforts on X-linked hypophosphatemia. Elizabeth has a strong commitment to advocacy and education for patients in the rare disease community. She currently serves on the Board of Directors for The XLH Network, Inc. and is a founding member of The International XLH Alliance.