Study sheds light on genetic differences that cause a childhood eye disease

Medical researchers at the University of Alberta have unlocked part of the mystery underlying a childhood eye disease.

New research shows how children with some types of glaucoma end up with missing or extra pieces of DNA.

The missing or extra bits of DNA are called copy number variations (CNVs). The U of A research team had previously shown how they play a major role
in causing some types of pediatric glaucoma – a disease that can lead to blindness.
In their current study, published in Human Molecular Genetics, the authors describe how the CNVs that cause childhood glaucomas are formed.

Using genetic samples from patients living with pediatric glaucoma, the research team studied the locations where extra or missing pieces of DNA begin and end.

Close examination of these break points allowed the team to determine how these copy number variations occur.

The research team has received funding from the Emerging Research Teams Grant Program, which was created by the Faculty of Medicine & Dentistry and Alberta Health Services to provide startup money to promising research groups.

The study was undertaken in collaboration with researchers at the University of Chicago, the Wellcome Trust Sanger Institute, the Leicester Royal Infirmary and the UCL Institute of Child Health.