Published Research

Pediatric Obesity–Rare Genetic Causes

Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA. Pediatric Obesity—Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. J Clin Endocr Metab. 31 January 2017; 102(3): 709-757.

POMC Deficiency Obesity

Low, MJ. Neuroendocrinology: New Hormone Treatment for Obesity Caused by POMC-Deficiency. Nat Rev Endocrinol. 23 September 2016. doi:10.1038/nrendo.2016.156

Challis BG, Millington GWM. Proopiomelanocortin Deficiency. GeneReviews. December 13, 2013.

Baker M, Gaukrodger N, Mayosi BM, Imrie H, Farrall M, Watkins H, Connell JMC, Avery PJ, Keavney B. Association Between Common Polymorphisms of the Proopiomelanocortin Gene and Body Fat Distribution. Diabetes. Aug 2005; 54(8):2492-6.

Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A. Severe Early-Onset Obesity, Adrenal Insufficiency and Red Hair Pigmentation Caused by POMC Mutations in Humans. Nat Genet. June 1998; 19(2):155-7.

Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, Hallmans G, Varga TV, Kardia SLR, Smith JA, Zhao W, Faul JD, Weir D, Mi J, Xi B, Canizales Quinteros S, Cooper C, Sayer AA, Jameson K, Grøntved A, Fornage M, Sidney S, Hanis CL, Highland HM, Häring H-U, Heni M, Lasky-Su J, Weiss ST, Gerhard GS, Still C, Melka MM, Pausova Z, Paus T, Grant SFA, Hakonarson H, Price RA, Wang K, Scherag A, Hebebrand J, Hinney A, BioBank Japan, AGEN-BMI, GIANT Consortium, Franks PW, Frayling TM, McCarthy MI, Hirschhorn JN, Loos RJ, Ingelsson E, Gerstein HC, Yusuf S, Beyene J, Anand SS, Meyre D. Contribution of Common Non-Synonymous Variants in PCSK1 to Body Mass Index Variation and Risk of Obesity: A Systematic Review and Meta-Analysis with Evidence from up to 331 175 Individuals. Hum Mol Genet. March 2015; 24(12):3582-3594.

Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M-L, Sanders L, Montague CT, Hutton JC, O’Rahilly S. Obesity and Impaired Prohormone Processing Associated with Mutations in the Human Prohormone Convertase 1 Gene. Nat Genet. July 1997;16(3):303-6.

LEPR Deficiency Obesity

Huvenne H, Le Beyec J, Pépin D, Alili R, Pigeon Kherchiche P, Jeannic E, Frelut M-L, Lacorte J-M, Nicolino M, Viard A, Laville M, Ledoux S, Tounian P, Poitou C, Dubern B, and Clément K. Seven Novel Deleterious LEPR Mutations Found in Early-Onset Obesity: a Exon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect. J Clin Endocrinol Metab. May 2015; 100(5): E757–E766.

Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O’Rahilly S. Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor. N Engl J Med. 2007; 356:237-247.

Clément L, Vaisse C, Lahlou N, Cabrolk s, Pelloux V, Cassuto D, Gourmelenk M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougnères P, Lebouck Y, Froguel P, Guy-Grand B. A Mutation in the Human Leptin Receptor Gene Causes Obesity and Pituitary Dysfunction. Nature. 1998; (392): 398-401.

Prader-Willi Syndrome

Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating Mutations of MAGEL2 Cause Prader-Willi Phenotypes and Autism. Nat Genet. (September 2013) 45, 1405–1408.

Mercer RE, Michaelson SD, Chee MJS, Atallah TA, Wevrick1 R, Colmers WF. Magel2 is Required for Leptin-Mediated Depolarization of POMC Neurons in the Hypothalamic Arcuate Nucleus in Mice. PLOS Genet. 2013;9(1):e1003207. doi: 10.1371/journal.pgen.1003207. Epub 2013 Jan 17.

We’re working on learning more. SIGN UP FOR UPDATES >
SIGN UP FOR UPDATES >

Change the way our world understands obesity

Not all obesity is the same. We've spent years studying rare genetic disorders of obesity, but there's more to learn.

If you or a loved one are affected by genetic obesity or feel like your obesity is unique, sign up for updates, educational materials, and the latest community news. Together, we can better understand genetic obesity.

Please reconfirm your email.
Please enter a valid email.
NEXT

That's great! And can we get your name?

Please enter a full name.
NEXT

, are you...

Please select any that apply:

Please check one
NEXT

Perfect! And your address?

By submitting, I understand my information will be used as set forth in the privacy policy and accept the use of cookies.
Please check for typos or missing information.
SUBMIT

Thanks for signing up, !

You're all set to start receiving updates, but we'd like to get to know you better. Your answers can help us connect you with relevant groups and educational materials.

Do you frequently experience excessive or insatiable hunger?

Did you start gaining weight at a young age?

Please make a selection to update your profile

If not applicable, please skip.

How many of the people you care for are
affected by genetic obesity?


1 - Person you care for

Why are we asking? Knowing the birth year helps
prevent duplicate profiles.

Does the person you care for frequently experience excessive or insatiable hunger?

Did the person you care for start gaining weight at a young age?


2 - Person you care for

Why are we asking? Knowing the birth year helps
prevent duplicate profiles.

Does the person you care for frequently experience excessive or insatiable hunger?

Did the person you care for start gaining weight at a young age?


3 - Person you care for

Why are we asking? Knowing the birth year helps
prevent duplicate profiles.

Does the person you care for frequently experience excessive or insatiable hunger?

Did the person you care for start gaining weight at a young age?

Please make a selection to update your profile.
Please check for typos or missing information.
UPDATE MY PROFILE
SKIP

Thanks again, !

You will receive a confirmation email shortly. In the meantime, feel free to explore the Genetic Obesity Project site and community.

The Genetic Obesity Project is dedicated to helping people better understand certain genetic causes that result in conditions known as rare genetic disorders of obesity. Watch the video to see why getting a diagnosis is an important step.

LEARN MORE ABOUT US

From inspiring stories to educational insights, join our page and become part of an understanding and supportive community.

Find us on Facebook >

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.
Back to Top
 

You are about to leave this website.

Please click YES to continue.

YES