For Healthcare Professionals:

About the Genetic Obesity ID (GO-ID) Initiative

We invite you to participate in two initiatives of The Genetic Obesity Project to improve diagnosis and understanding of obesity resulting from either POMC (pro-opiomelanocortin) or LEPR (leptin receptor) deficiency—two rare but important types of genetic, early-onset obesity.

You can participate in either of the following programs:

  1. Genetic Obesity ID | REGISTRY:  A registry for confirmed POMC and LEPR deficiency patients
  2. Genetic Obesity ID | GENOTYPING STUDY:  An IRB-approved genetic screening study for individuals suspected of POMC or LEPR deficiency obesity

POMC deficiency obesity and LEPR deficiency obesity are exceptionally rare. We believe, however, that the prevalence of these disorders is underestimated. The goal of the Registry is to identify patients worldwide with a confirmed diagnosis of these genetic disorders, and the Genotyping Study is underway to screen people for these serious, often life-threatening, diseases. It is our hope that through more careful study, we will gain a better understanding of the true prevalence of POMC and LEPR deficiency obesity and the spectrum of their clinical presentations, thus allowing for earlier diagnosis and more targeted medical management.

Recent studies suggest that POMC and LEPR deficiency obesity are distinct syndromes that may be clinically identifiable and uniquely responsive to therapies aimed at the underlying POMC and LEPR gene defects (and also including PCSK1 mutations as another gene defect implicated in POMC deficiency obesity). Thus, this genotyping study also has the potential for identifying children and adults who might benefit from ongoing research into these conditions.

If you have any questions, please do not hesitate to contact us:

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We look forward to hearing from you.

Karine Clément MD, PhD
Director of Institute of Cardiometabolism and Nutrition (ICAN)
INSERM/UPMC , Pitié-Salpêtrière Hospital, AP/HP
Paris, France

Prof. Sadaf Farooqi PhD, FRCP, FMedSci
Wellcome Trust Senior Clinical Fellow and Professor of Metabolism and Medicine
University of Cambridge Metabolic Research Laboratories
Cambridge, United Kingdom

Prof. Lee M. Kaplan, MD, PhD
Director, Obesity, Metabolism and Nutrition Institute
Massachusetts General Hospital
Boston, Massachusetts, USA

Dr. Peter Kühnen, MD
Institute of Experimental Pediatric Endocrinology
Charite Children’s Hospital
Berlin, Germany

Dr. Jennifer Miller, MD
Division of Pediatric Endocrinology
University of Florida College of Medicine
Gainesville, Florida, USA

The GO-ID Genotyping study is supported by a grant from Rhythm.

The Genetic Obesity Project is an initiative of Rhythm Pharmaceuticals, Inc. The content on this site is intended for use by patients, caregivers, and healthcare professionals for informational purposes only and is not intended to be taken as medical advice.
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