Research into Canine Syringomyelia receives generous donation from the Ann Conroy Trust

Dr Clare Rusbridge receives a cheque from Ann Conroy Trust Chairman Mr Tony Kember (right) and President and Affiliated Neurosurgeon Mr Graham Flint (left)

This generous donation is much needed and pivotal for the search of the genetic causes of Chiari malformation.  Clare Rusbridge has been investigating and treating Canine Chiari malformation since 1997 when she met her first patient, a Cavalier called Beau, who was presented because of limb (arm!) weakness, poor balance and sensitivity to touch. It soon became apparent that hundreds of pets across the world were affected by this disease, and with the help of research assistant Penny Knowler, a database of affected dogs and DNA was collected. Later this Stone Lion Veterinary Hospital team was joined by geneticists Drs Zoha Kibar and Guy Rouleau. Dr Rouleau is the Director of the CHU Sainte-Justine Research Center and a Professor at the Department of Medicine of the Université de Montréal. His work deals with various neurological illnesses with a genetic component, including amyotrophic lateral sclerosis, cerebrovascular accidents, familial aneurysms, cavernous hemangiomas, epilepsy, spinocerebellar ataxia, spastic paraplegia, autism, Tourette’s syndrome, restless legs syndrome, schizophrenia and bipolar disorders. Dr Kibar was trained by Dr Rouleau and has a particular interest in Chiari malformation and spinal bifida.
Canine Chiari malformation (CM) is the only known naturally-occurring animal model for the condition in humans and represents a powerful tool for deciphering its complex genetic etiology. The team aims to identify the CM gene(s) in the dog which will provide an entry point for identifying equivalent genes involved in CMI in humans. Understanding the genetics will allow better understanding of the cause and what treatment / management would be best
 So far we have conducted a scan of the whole dog genome on normal and CM affected dogs and showed significant association of the CM disease with two chromosomal regions. Thanks to generous funding by the Ann Conroy Trust we are able to take the next step which is to investigate these two regions for true association to CM by additional genetic studies in a larger group of  dogs. We are very grateful to the Ann Conroy trust for enabling this next step in this long road to identify the defective CM in the dog and ultimately in humans.