Philip Hieter
A new Canadian research network to study rare diseases and how genetic mutations cause these diseases will be established with a $2.3 million grant from the Canadian Institutes for Health Research (CIHR).
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network is led by Philip Hieter, a Professor of Medical Genetics, along with Kym Boycott, senior scientist at the Children’s Hospital of Eastern Ontario (CHEO), and Janet Rossant, senior scientist at The Hospital for Sick Children (SickKids).
The network aims to pair clinicians working with patients affected by rare diseases with research scientists to identify the genes that cause rare diseases and to better understand the molecular function of these genes.
“Our efforts will build on Canada’s proven leadership in rare disease gene discovery through national engagement and by catalyzing connections between clinicians and basic scientists,” said Dr. Hieter, a scientist in the Michael Smith Laboratories. “We hope that these collaborative studies will hold the keys to the development of new therapies.”
There are an estimated 7,000 rare diseases but each occurs in fewer than one in 2,000 people, so they are not typically the focus of research laboratories. When added together, however, rare diseases affect about three per cent of the North American population.
With recent advances in gene sequencing technology, researchers are able to identify the genes that cause rare diseases quickly and easily. Canadian researchers including Boycott’s team at CHEO have shown leadership in this field by identifying 146 genetic mutations that cause rare childhood diseases in less than two years.
Identifying the gene is one step but researchers also need to understand how these mutations affect an individual in order to begin thinking about treatments and cures. Insight into most human rare diseases can be informed through analysis of the equivalent genes in model organisms such as yeast, worms, fruit flies, zebrafish and mice.
Dr. Hieter studies the molecular genetics of proteins that are required for proper transmission of chromosomes during cell division, with the goal of relating his work in yeast to human diseases.