Understanding the genetic basis of lipedema

Summary Lipidema is a debilitating disease caused by excessive accumulation of fat in arms and lower extremities, affecting women at the onset of puberty. There is no known cure. Often, there is a lymphodema component associated with this disease but the precise role of lymphatics in disease pathology is unclear. This project will initiate a genetic screen of affected individuals and their families in order to identify genes that may be affected in these patients.

Project Details

Lipidema is a debilitating disease caused by excessive accumulation of fat in arms and lower extremities, affecting women at the onset of puberty. There is no known cure. Often, there is a lymphodema component associated with this disease but the precise role of lymphatics in disease pathology is unclear. This project will initiate a genetic screen of affected individuals and their families in order to identify genes that may be affected in these patients. This project will utilise microarray platforms, immunohistochemistry of human specimens, metabolomics, bioinformatics and the generation of animal models using CRISPR technology to determine whether there is a mutation within a specific gene of affected individuals that leads to Lipidema.

This project is conducted in St Vincent’s Institute of Medical Research, Lympathic and Regenerative Surgery Group, (O’Brien Institute Department of SVI).