معرفی
Clemens W.H. Bergwitz, MD, is an Associate Professor of Medicine at Yale School of Medicine and a practicing endocrinologist at Yale New Haven Hospital. His research focuses on genetic disorders of mineral metabolism, particularly hypophosphatemia, and he leads clinical trials for X-linked hypophosphatemia, osteogenesis imperfecta, and hypophosphatasia.
- Identified genetic defects in Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) in 2006
- Developed murine models for studying phosphate therapy responses
- Conducting genome-wide RNAi screens for phosphate-sensing mechanisms
Research trends span phosphate homeostasis, signaling pathways in bone disorders, and metabolic sensing mechanisms. Key subfields include NaPi-IIc transporter function, MRGPRD receptor activation, FGF23 regulation, and clinical management of rare bone diseases.
Scientific contributions recognized through:
- Yale Center for Clinical Investigation Pilot Grant
- O’Brien Center Pilot Funding
- Multiple Young Investigator Awards from National Kidney Foundation and American Society for Clinical Investigation
As clinician-scientist, Dr. Bergwitz bridges patient care with laboratory research, maintaining active involvement in clinical trials for genetic skeletal diseases while serving as endocrine consultant at major hospital networks. His work emphasizes international collaborations for molecular diagnosis of rare phosphate disorders.
