Rachel I Gafni MD FASBMR (She/Her)

Pediatric Bone Metabolism Disorders

Senior Research Physician

30 Rockville PikeBethesda, MD 20892
Phone+1 301-594-9924
Fax+1 301-480-9962

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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

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Certifications & Licensure

MD State Medical License 2002 - 2028
DC State Medical License 2015 - 2027
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
RECRUITING
Effects of PTH Replacement on Bone in Hypoparathyroidism Start of enrollment: 2006 Oct 30
TERMINATED
PHASE3
BGJ398 for the Treatment of Tumor-Induced Osteomalacia Start of enrollment: 2019 Feb 27
TERMINATED
PHASE2

Publications & Presentations

PubMed

Burosumab treatment in an adult with FGF23-mediated hypophosphatemia due to cutaneous skeletal hypophosphatemia syndrome.
Laura L Tosi, Elmer N Rajah, Austin P Gillies, Mirini Kim, Kendall Reid
Journal of the Endocrine Society. 2026-04-01
3 citations
Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.
Carlos R Ferreira, Mary E Hackbarth, Yvonne Nitschke, Ulrike Botschen, Rachel I Gafni
JBMR Plus. 2025-05-01
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
Fiona Obiezu, Konstantinia Almpani, Hung Jeffrey Kim, Christopher Zalewski, Emily Chu
JBMR Plus. 2025-02-01

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 Burden
Alison 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

Lectures

Low Bone Mass in Adolescents
ENDO 2018: 100th Endocrine Society Annual Meeting - Chicago, Illinios - 03/19/2018

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