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Office
30 Rockville Pike
Bethesda, MD 20892Phone+1 301-594-9924Fax+1 301-480-9962
Education & Training
- National Institutes of Health Clinical Center/Eunice Kennedy Shriver NICHDFellowship, Pediatric Endocrinology, 1996 - 1999
- Children's Hospital of PhiladelphiaResidency, Pediatrics, 1992 - 1995
- Lewis Katz School of Medicine at Temple UniversityClass of 1992
Certifications & Licensure
- DC State Medical License 2015 - 2027
- MD State Medical License 2002 - 2026
- NC State Medical License 1995 - 2003
- PA State Medical License 1993 - 1995
- American Board of Pediatrics Pediatric Endocrinology
Clinical Trials
- A Natural History Study of Bone and Mineral Disorders Start of enrollment: 2001 Nov 19
- Effects of PTH Replacement on Bone in Hypoparathyroidism Start of enrollment: 2006 Oct 30
- BGJ398 for the Treatment of Tumor-Induced Osteomalacia Start of enrollment: 2019 Feb 27
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Publications & Presentations
PubMed
- 4 citationsEfficacy and Safety of Encaleret in Autosomal Dominant Hypocalcemia Type 1.Rachel I Gafni, Iris R Hartley, Kelly L Roszko, Edward F Nemeth, Karen A Pozo
The New England Journal of Medicine. 2023-09-28 - Atypical Fragility Fractures due to Bony or Soft Tissue Phosphaturic Mesenchymal Tumors: A Report of Two Cases.Stephanie M Clegg, Emily S Eiel, Sara Fine, Rachel I Gafni, Mathew J Most
Case Reports in Orthopedics. 2023-01-01 - 8 citationsHypoparathyroidism: Genetics and Diagnosis.Michael Mannstadt, Luisella Cianferotti, Rachel I Gafni, Francesca Giusti, Elizabeth Helen Kemp
Journal of Bone and Mineral Research. 2022-12-01
Journal Articles
- Bone Matrix Mineralization in Patients with Gain‐of‐Function Calcium‐Sensing Receptor Mutations Is Distinctly Different from That in Postsurgical Hypoparathyroidism*David Dempster, Rachel I Gafni, Journal of Bone and Mineral Research
- Activation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated with Disease BurdenAlison M Boyce, Jeffrey Tsai, Rachel I Gafni, Journal of Bone and Mineral Research
- Skeletal Consequences of Nephropathic Cystinosis*Rachel I Gafni, Mary Scott Ramnitz, Michael T Collins, Dorothy Bulas, William A Gahl, Galina Nesterova, Isidro B Salusky, Journal of Bone and Mineral Research
Press Mentions
- With Early Phase 2 Data, BridgeBio Plots Next Steps for Hypoparathyroidism DrugMarch 22nd, 2021
- BridgeBio Pharma Announces Proof-of-Concept Data of Encaleret in ADH1 at the Endocrine Society’s 2021 Annual MeetingMarch 20th, 2021
- The Sugar That's Hiding in Your Kids' FoodsJanuary 13th, 2016
Professional Memberships
- Member
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