Fitzpatrick’s team help to find candidate gene for Chiari malformation in dogs.

Published 16.04.14

An international team has made great advances in understanding the genetics of a painful skull abnormality called Chiari-like malformation. The inheritance of this disorder is complex and an expert genetics group headed by Dr Zoha Kibar at Sainte Justine Hospital Research Center and University of Montreal used an quantitative trait locus approach that linked DNA molecular markers with magnetic resonance imaging information gleaned by Fitzpatrick referrals and University of Surrey researcher Penny Knowler and neurologist Dr Clare Rusbridge (see article here).

The team identified two DNA regions that were strongly associated with Chiari-like malformation in the dog.  One region contains an excellent candidate gene called Sall-1.  Sall-1 is involved in development of the skull and has been associated with a disease linked to Chiari malformation in humans. The team is very excited by this finding because not only may it help dogs and breeders but it might help understand the condition in humans.

This YouTube Video illustrates the changes occurring in a dogs skull suffering from Chiari-like malformation. See video on YouTube.

The research was published in the journal PLOS ONE.