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