Workshop on Rare Syndromic Body Fat Disorders: What Can They Teach Us?

March 1–2, 2012  -  Workshop on Rare Syndromic Body Fat Disorders: What Can They Teach Us?

Event Details

Studies of rare disorders affecting the amount and distribution of body fat provide opportunities to define previously unidentified genes and biological pathways involved in appetite regulation, adipose tissue biology, and energy homeostasis, and to provide novel insights into the myriad of mechanisms potentially contributing to obesity and its adverse consequences.

At this workshop, we will hear about several disorders (Prader-Willi syndrome, ciliopathies, and lipodystrophies) where patients/families have been identified and phenotyped, the causative mutations defined, and progress has been made in elucidating how the affected protein(s) and pathway(s) impact energy balance. We also hope to get an idea of the number of individuals/families with obesity and lipodystrophic syndromes where the genetic causes are unknown, and to learn what hurdles are commonly encountered when trying to find the causative mutations. Through presentations and discussions, we hope to encourage further investigation of cells from families with rare single gene or syndromic obesity disorders to learn about unknown biological pathways regulating energy balance, and to encourage further human research to shed light on why obesity occurs in some individuals with the "same" syndrome but not in others.

Meeting Organizers

Sadaf Farooqi, Cambridge University
Abhimanyu Garg, University of Texas Southwestern Medical Center
Jay Shendure, University of Washington
Carol Haft, Saul Malozowski, Sheryl Sato, and Phil Smith, NIDDK


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Agenda (last updated February 29)

Day 1 – Thursday, March 1, 2012
7:30 – 8:15 a.m. Registration
8:15 – 8:30 a.m. Welcome
Greg Germino, Deputy Director of NIDDK
8:30 – 9:15 a.m. Obesity:  Insights from Human Genetic Studies
Sadaf Farooqi, University of Cambridge
9:15 – 10:00 a.m. Genetic Lipodystrophies:  Disorders of Adipose Tissue Development, Differentiation, and Death
Abhimanyu Garg, The University of Texas Southwestern Medical Center
10:00 – 10:30 a.m. Break

Session I:  Pluses and Minuses of Models Used to Investigate Rare Fat Deposition Disorders
Moderator:  Abhimanyu Garg

This session will highlight several different experimental systems used by investigators to elucidate the details of the molecular mechanism leading to altered fat deposition and obesity.  Speakers should explain why the system used was chosen, and detail the advantages and limitations of the system.
10:30 – 11:00 a.m.  Brain-derived Neurotrophic Factor in WAGR Syndrome and Non-syndromic Obesity
Joan Han, National Institute of Child Health and Human Development
11:00 – 11:30 a.m. Ciliopathies and Alterations of Fat Deposition—Mouse Work
Philip Beales, University College London
11:30 – 12:00 p.m. Loss of Processed snoRNA (psnoRNA) Expression in Prader Willi Syndrome Changes Expression of Genes Involved in Energy Metabolism
Stefan Stamm, University of Kentucky
12:00 – 12:30 p.m. Use of IPS Cells to Study Lipodystrophies and Other Diseases of Fat Deposition
Chad Cowan, Harvard University
12:00 – 2:00 p.m.  Lunch and Poster Session

Session II: Genetic Determinants of Metabolic Diseases
Moderator:  Jay Shendure

This session will focus on recent technological advances in functional genomics and will address major challenges in identifying causal variants in human disease.
2:00 – 2:30 p.m. Genetic Approaches for Finding Phenotypically Causal Variants in Human Disease
Jay Shendure, University of Washington
2:30 – 3:00 p.m. Searching for Genes for the Metabolically Healthy Obese (and the Metabolically
Unhealthy Lean) to Indentify New Physiological Pathways that Underlie Adiposity and Fat Deposition
Ruth Loos, Mount Sinai School of Medicine
3:00 – 3:15 p.m. A Novel Null Mutation in Human Hormone Sensitive Lipase (HSL) Is Associated With Lipodystrophy, Dyslipidemia and Insulin Resistance
Coleen M. Damcott, University of Maryland School of Medicine
3:15 – 3:45 p.m. Break
Several meeting participants with interesting patients/leads/mouse models taken from submitted abstracts will be asked to present a few background slides, which will then be followed by a discussion with the group about what could be done to move these projects forward.
3:45 – 5:15 p.m. 

Mice Deficient of the Inflammatory Gene – FAT10 Display Markedly Reduced Fat
Formation and Increased Longevity
Allon Canaan, Yale University School of Medicine

Characterization of New Non-Coding RNAs that Regulate Genes Involved in Fat/Energy Metabolism
Marian Falaleeva, University of Kentucky

A Novel Mouse Model of Combined Lipomatosis and Partial Lipodystrophy Reveals White Adipocytes Arise from Myf5+ Precursors
David Guertin, University of Massachusetts Medical School

XLαs Antagonizes Metabolic Control by Gsα In Vivo

Ahmed Kablan, National Institutes of Diabetes, Digestive, and Kidney Diseases, NIH
5:15 p.m.  Adjournment
Day 2 – Friday, March 2, 2012
7:30 – 8:15 a.m. Registration
Session III:  Pleiotropic “Obesity Syndromes”
Moderator: Philip Beales

This session will examine rare genetic syndromes for which obesity is manifest in many but not all individuals. Speakers should explore possible mechanisms underlying the variable expression of obesity in these syndromes.
8:15 – 8:45 a.m. Obesity and Associated Traits in Alström Syndrome
Jürgen Naggert, The Jackson Laboratory
8:45 – 9:15 a.m. Obesity and X-linked Mental Retardation:  Mechanistic Insights into Borjeson-Forssman-Lehmann Syndrome
David Picketts, Ottawa Hospital Research Institute
9:15 – 9:45 a.m.  Imprinting, Brain Development, and Pleiotropy of 15q11-q13 Disorders
Janine M. LaSalle, University of California, Davis, School of Medicine
9:45 – 10:15 a.m. Break

Session IV:  Treatment of Rare Syndromic Body Fat Disorders
Moderator: Jack Yanovski

This session will explore approaches being taken to develop effective treatments for rare, sometimes pleiotropic “obesity syndromes. ”  Speakers should comment on some of the challenges encountered in trying to treat rare diseases involving multiple pathways and tissues even when the cellular defect is known.

10:15 – 10:45 a.m. NIH Resources to Aid in the Development of Therapeutics
Gurmit Grewal, National Center for Advancing Translational Sciences (NCATS)
10:45 – 11:00 a.m. Pharmacological Chaperones: Potential Therapeutic Approach to Treat MC4R-Linked Early Onset Obesity
Patricia René, University of Montreal
11:00 – 11:15 a.m. Biochemical and Molecular Characterization of the Serotonin Receptor 2C (HTR2C) in Energy Homeostasis Control
Manli Shen, University of Kentucky
11:15 – 11:45 a.m. Rare Mutations in the Leptin-Melanocortin Pathway:  Implications for the Treatment of Obesity
Christian Vaisse, University of California, San Francisco
11:45 – 12:15 p.m. Learning on the Job in Lipodystophy:  Going from Therapy to Pathophysiology
Elif Oral, University of Michigan
12:15 – 12:45 p.m. Identification of Allosteric Modulators of the MC4 Receptor for Treatment of Melanocortin Obesity Syndrome
Roger Cone, Vanderbilt University
12:45 – 1:00 p.m. Closing Remarks
1:00 p.m. Adjourn

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Abstract Submission Information

Meeting participants are encouraged to submit abstracts from which posters and several short oral presentations will be selected. A limited number of travel awards are available for students, post doctoral fellows and junior investigators submitting abstracts.

Please follow the instructions below to submit an abstract for consideration:
  1. The deadline for submission is February 9, 2012.
  2. Please send the abstract via email to Ms. Michelle Watson at with "Body Fat Disorders" in the subject line. Attach the abstract as a MS Word document, and make any relevant comments in the text of the email.
  3. The abstract title should be typed in bold font, Title Case Letters.
  4. List the names, degrees and institutional affiliations of all authors, and italicize the name of the presenting author.
  5. The abstract should not exceed one page. Please list the source(s) of funding at the end of the abstract.

Poster Presentations
Posters do not need to be elaborate. Poster boards, (4 feet high by 6 feet wide), pushpins and Velcro will be provided on site. Sponsorship of any type should be indicated on poster.

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For questions concerning program content, contact:

Carol Haft, Ph.D.
Program Director for Adipocyte Biology
Division of Diabetes, Endocrinology, and Metabolic Diseases
National Institute of Diabetes and Digestive and Kidney Diseases
Telephone: (301) 594-7689

For questions concerning logistical information or registration, contact:

Michelle Watson
The Scientific Consulting Group, Inc.
Phone: (301) 670-4990

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Registration and Logistics

Meeting Location

Lister Hill Auditorium

Building 38 A
National Institutes of Health
Bethesda, MD

The Lister Hill Auditorium is located on the NIH Campus in building 38A. For a map, general information, and directions to and around the NIH Campus, visit:

NIH Campus Access
All visitors must enter through the NIH Gateway Center at Metro or the West Gateway Center (see the Visitor Map at
  • Gateway Center
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    Open 24 hours, 7 days per week
  • West Gateway Center
    Near Old Georgetown Road and South Drive
    Open 6 a.m. - 12 p.m., Monday-Friday
All visitor vehicles, including taxicabs, hotel and airport shuttles, and vans will be inspected before being allowed on campus. Visitors will be asked to show one (1) form of identification (a government-issued photo ID: driver's license, passport, green card, etc.) and to state the purpose of their visit. Visitors will receive a pass that should be worn prominently at all times while on campus. Be sure to allow at least 15-20 minutes for this inspection procedure.

Parking on the NIH campus is limited and is $12 per day in the visitor lots.

Hotel Accommodations

Hyatt Regency Bethesda Hotel
One Bethesda Metro Center
7400 Wisconsin Avenue
Bethesda, MD 20814
Telephone: (301) 657-1234 or (800) 233-1234
Website: Exit Disclaimer

A block of sleeping rooms has been reserved at the Hyatt Regency Bethesda, Bethesda, MD, for arrival on Wednesday, February 29, 2012, and departing on Friday, March 2, 2012. The room rate is $211 plus tax per night. You will be responsible for the room cost and your incidental charges upon checkout. Self-parking at the hotel is $15 per day/overnight. Valet parking is $20 per day/overnight.

Please contact the Hyatt Regency Bethesda by Monday, January 30, 2012, at (301) 657-1234 or 1 (800) 233-1234, and reference the "NIDDK's Workshop on Rare Syndromic" when making your sleeping room reservations. For online registrations, please use the meeting code RARE at the following link: Exit Disclaimer. Please be certain that the hotel provides you with a confirmation number. After January 30, 2012, the hotel will accept reservations on a space-available basis at the prevailing hotel rate.

When making a reservation, please provide your room and bedding preferences. The hotel will assign specific room types at check-in, based on availability. Please be advised that requests are not guaranteed. Check-in time is at 3:00 p.m., and check-out time is 12:00 noon. If for any reason you need to cancel your hotel reservation, please do so 48 hours in advance of your check-in date.

Metro Information
The Metro System is clean, reliable, and safe. It operates from 5:30 a.m. to 12:00 midnight Monday through Thursday; 5:00 a.m. to 2:00 a.m. on Fridays; 8:00 a.m. to 2:00 a.m. on Saturdays; and 8:00 a.m. to 12:00 midnight on Sundays. Each passenger must buy a farecard to travel in the system. Guides for purchasing farecards are posted on the vending machines in each station. Each Metro car features a complete color-coded map. Station attendants on duty at each station can provide additional information on request.

From Union Station or downtown Washington (main Metro Lines into the city converge at Metro Center Station and Gallery Place Station), take the Metro Red Line toward Shady Grove or Grosvenor. Exit at the Bethesda Metro Station. The Hyatt is directly above the Bethesda Metro Station.

SuperShuttle offers service to most hotels from Ronald Reagan National Airport, Washington Dulles International Airport, and Baltimore/Washington International Thurgood Marshall Airport. The shuttle leaves on an as-needed basis between the hours of 5:30 a.m. and 11:00 p.m. During other times, arrange for a shuttle by calling 800-258-3826 from the airport.

The taxi fare is approximately $45-$55 from Ronald Reagan Washington National Airport, approximately $55-$65 from Washington Dulles International Airport, and approximately $65-$75 from Baltimore/Washington International Thurgood Marshall Airport. Fares may differ during peak travel hours.

Marc Trains
From BWI Airport, take the MARC train on the Penn Line to Union Station. Take the Metro Red Line toward Grosvenor or Shady Grove and exit at the Bethesda Metro Station. The hotel is directly above the Bethesda Metro Station.

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Page last updated: February 29, 2012

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