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Smita Jha, M.D.

Photo of Smita Jha, M.D.
Scientific Focus Areas: Clinical Research, Genetics and Genomics

Professional Experience

  • Director, Bone & Mineral Disorders Research, Metabolic Diseases Branch, 2020-present
  • Assistant Research Physician, Section on Congenital Disorders, NIH Clinical Center, 2018-2020
  • Faculty, Inter-Institute Endocrinology Training Program, 2016- present
  • Scholar in Translational Research, NIAMS, 2016-2018
  • Endocrinology and Metabolism Fellowship, Inter-Institute Endocrinology Training Program, NICHD, 2013-2016
  • Internal Medicine Residency, North Shore Medical Center, 2009-2012
  • M.D., Bangalore Medical College and Research Institute, 2007

Current Research

Our long-term goal is to enhance the knowledge and ultimately advance the care of patients with disorders of bone and mineral metabolism. The primary disorders of interest include a) familial hyperparathyroidism including familial hypocalciuric hypercalcemia, multiple endocrine neoplasia 1, familial isolated hyperparathyroidism and hyperparathyroid jaw tumor syndrome b) pseudohypoparathyroidism and related disorders c) Jansen’s metaphyseal chondrodysplasia.

Applying our Research

We aim to elucidate the pathophysiology of diseases under study and identify targets for intervention.

Select Publications

Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.
Jha S, Ivovic A, Kang H, Meylan F, Hanson EP, Rimland C, Lange E, Katz J, McBride A, Warner AC, Edmondson EF, Cowen EW, Marini JC, Siegel RM, Bhattacharyya T.
J Invest Dermatol (2021 Mar) 141:688-692.e11. Abstract/Full Text
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Kang H, Jha S, Ivovic A, Fratzl-Zelman N, Deng Z, Mitra A, Cabral WA, Hanson EP, Lange E, Cowen EW, Katz J, Roschger P, Klaushofer K, Dale RK, Siegel RM, Bhattacharyya T, Marini JC.
J Exp Med (2020 May 4) 217. Abstract/Full Text
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Research in Plain Language

We study patients with rare disorders or rare presentations of common disorders of bone and mineral metabolism. Some examples of these disorders are

  • familial hyperparathyroidism including familial hypocalciuric hypercalcemia, multiple endocrine neoplasia 1, familial isolated hyperparathyroidism and hyperparathyroid jaw tumor syndrome
  • pseudohypoparathyroidism and related disorders
  • Jansen’s metaphyseal chondrodysplasia

We wish to identify new targets for treatment of rare and common disorders of bone and mineral metabolism.