Richard Rachubinski, chair of the Department of Cell Biology in the Faculty of Medicine & Dentistry at the University of Alberta is at the centre of a first-of-its-kind collaboration.
The Canadian Rare Diseases Models and Mechanism (RDMM) Network, where Rachubinski is the scientific director, was recently awarded a $2.3 million grant from the Canadian Institutes of Health Research (CIHR) in partnership with Genome Canada to better understand the basic molecular function of genes and specific gene mutations.
The RDMM Network, which is led by Drs. Philip Hieter (University of British Columbia), Kym Boycott (University of Ottawa) and Janet Rossant (University of Toronto), will advance rare disease research in Canada.
Rachubinsk, as scientific director, will work with his colleagues across the country to link clinicians who identify rare diseases with model investigators.
"We know very little about the mechanistic function of the rare disease genes," said Rachubinski. "So this is why understanding their functions through model organisms is vital. Using fruit fly or yeast, for example, gives us a quick way to look at these genes and how they function."
Rachubinski says that understanding this molecular function will lead to rational therapeutic intervention. "One in 12 Canadians has a rare genetic disorder, creating a tremendous strain on the health-care system. Discovering how these rare genes work will lead to new ways for treatment," he said.
The RDMM, through its scientific advisory committee, will fund 24 catalyst projects annually. Rachubinski notes that this funding will be "seed money" for researchers and will hopefully lead to longer term collaborations and subsequent funding for laboratory and/or applied research.
In the midst of being a part of this exciting Canadian collaboration, Rachubinski also received an international honour in November 2014. He was named a Fellow of the American Association for the Advancement of Science (AAAS) for his significant contributions to the study of the mechanisms of peroxisome biogenesis and the molecular bases of the peroxisome biogenesis disorders. Peroxisomes are a compartment of the cell involved in lipid metabolism and the detoxification of reactive oxygen molecules like hydrogen peroxide. Rachubinski is one of 10 foreign fellows and just the second fellow named from Canada this year.
Rachubinski adds the AAAS Fellowship honour to his already impressive list of accomplishments, which includes being named a Distinguished University Professor, a Howard Hughes Medical Institute International Research Scholar, a Canada Research Chair in Cell Biology, a Canadian Institutes of Health Research Senior Investigator, a Fellow of the Royal Society of Canada and a Fellow of the Canadian Academy of Health Sciences.
Rachubinski, while thrilled with this AAAS honour, credits the "wonderful and tremendously talented people" he's worked with throughout the years for contributing to his success. And while he is working with the RDMM, chairing the department and collecting accolades, he's quick to point out that he's "still on the bench" and loves being in his laboratory running experiments with the overall goal of improving health.