Scientists have found the gene mutations responsible for a rare disease which impairs the function of the liver and muscles in about 1 in 2500 Inuits in northern Quebec. Called glycogen storage disease type IIIa, this sickness causes a buildup of glycogen, a complex sugar, in the body. This in turn produces low blood sugar and high amounts of fat in blood.

This discovery will help physicians perform genetic screening of newborns in the population to detect the disease early, thus potentially reduce the long-term health impacts.

By performing genome sequencing on five Inuit children, and whole-genome sequencing on two of the children, researchers discovered that a mutation inherited from both parents is the cause of the disease.

Original research paper published in the Canadian Medical Association Journal on January 19, 2015.

Names and affiliations of selected authors

Celia Rodd, Children’s Hospital Research Institute of Manitoba, Manitoba