LF Funding History: 2017 Collaborative Award

Hypothesis: We hypothesize that genome sequencing of patients and their parents will allow the identification of which genes are mutated, and therefore, likely causative of familial lipoedema

Current LF Collaborations:

• Dr. Yann Klimentidis, University of Arizona

• Dr. Pia Ostergaard, St George's, University of London

Project: Investigating the Genetic and Developmental Basis of Lipoedema

This project seeks to identify the genetic and developmental basis of human lipoedema, a poorly understood disorder affecting adipose tissue and the vasculature. By understanding which genes “go wrong” in this disorder, we will gain valuable insight to the genetic and cellular events that cause lipoedema. Understanding the genetic basis of human lipoedema will provide new tools for diagnosis and aid in the treatment and counselling of patients. Ultimately, a detailed understanding of the deregulated molecular pathways that lead to lipoedema will provide new opportunities for the design of novel therapeutics able to treat this disorder.

We will undertake genome sequencing (whole exome sequencing) in patients and their parents (where possible), in order to identify which genes are mutated and therefore, likely causative, of familial lipoedema. In addition, we will undertake RNA sequencing of patient samples in order to identify biomarkers reflective of lipoedema. Genes found to be mutated in patients will then be further investigated in order to define their roles in vascular and adipose tissue development and function. These studies will provide a detailed documentation of the cellular and molecular pathways that underlie human lipoedema.