Rare Disease Foundation Microgrant helps diagnose a young girl's rare disease
July 30, 2014 Isabel JordanNews
A young girl's rare disease may provide clues to the genetic causes of obesity
For one family, a young girl's diagnosis with a rare genetic disease ended years of tests and referrals to explain her puzzling symptoms: an overgrowth of fatty tissue on specific parts of her body including her belly and one leg.
For the researchers who made the diagnosis, it provides insight into a rare, poorly understood disease and may shed light on the genes that cause obesity.
"This case illustrates how studying rare genetic diseases can inform our understanding of common diseases," says Dr. William Gibson (pictured right), the lead author on the study. "Improving our understanding of fibroadipose hyperplasia may help to explain why some fat deposits grow more than others, even in patients without this rare genetic mutation."
Dr. Gibson is a Senior Clinician Scientist at the Child & Family Research Institute at BC Children's Hospital, Medical Geneticist at BC Children's and an Associate Professor in the Department of Medical Genetics at the University of British Columbia.
Isabel Jordan
: research