Rebecca J. Brown, M.D., M.H.Sc.

Lasker Clinical Research Scholar

Section on Translational Diabetes and Metabolic Syndromes, Diabetes, Endocrinology, and Obesity Branch


Building 10, Room 6-5940
10 Center Drive
Bethesda, MD 20814


Research Topics

Research Goal

Our goal is to understand the basic mechanisms regulating energy metabolism in humans. We use rare diseases as models to understand perturbations in pathways regulating energy metabolism and apply what we learn from rare diseases to common conditions such as obesity and the metabolic syndrome.

Current Research

Our group studies pathophysiology and clinical therapeutics for rare disorders of extreme insulin resistance including lipodystrophy, mutations of the insulin receptor, and autoimmune conditions affecting insulin signaling. We are particularly interested in understanding the mechanisms of action of the adipokine, leptin, in improving metabolic disease in lipodystrophy.

Applying our Research

We conduct clinical trials to study new treatments for rare diseases, thereby improving the health of individuals with these rare conditions. In addition, we hope to apply what we learn from treating rare diseases to improve health in people with common conditions.

Need for Further Study

Further study is needed to understand the mechanism of action of leptin in treatment of lipodystrophy and other disorders of extreme insulin resistance.


  • Assistant Clinical Investigator, NIDDK, NIH, 2012–2015
  • Senior Fellow, NIDDK, NIH, 2008–2012
  • Fellow, NICHD, NIH, 2005–2008
  • Resident, Rainbow Babies and Children’s Hospital, 2002–2005
  • Lasker Tenure Track Investigator, NIDDK, NIH, 2015-present
  • M.H.Sc., Duke University, 2011
  • M.D., Mayo Medical School, 2002

Selected Publications

  1. Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB. Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. Proc Natl Acad Sci U S A. 2014;111(24):8901-6.

  2. Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. Elife. 2017;6.

  3. Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016;101(12):4500-4511.

  4. Diker-Cohen T, Cochran E, Gorden P, Brown RJ. Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. J Clin Endocrinol Metab. 2015;100(5):1802-10.

  5. Brown RJ, Joseph J, Cochran E, Gewert C, Semple R, Gorden P. Type B Insulin Resistance Masquerading as Ovarian Hyperthecosis. J Clin Endocrinol Metab. 2017;102(6):1789-1791.

Related Scientific Focus Areas

This page was last updated on May 26th, 2016