Medical genetics research group receives funding boost

Funding renewal allows leading medical genetics research group to move into fourth decade of operation

Funding for the CIHR Group in Medical Genetics was recently renewed for another five years, starting today. The group, originally formed in 1972, is made up of seven principal investigators, with current or former affiliations with the McGill University Health Centre (MUHC), McGill University and the Sir Mortimer B. Davis Jewish General Hospital. It studies the causes of inherited disorders, as well as how to diagnose, prevent or treat them. The Group is the longest-running research group in the history of the CIHR (Canadian Institutes of Health Research, formerly Medical Research Council).

"Our work covers all levels of genetic disease," explains group director Dr. Rima Rozen, Deputy Scientific Director of the MUHC Research Institute and Scientific Director of the Montreal Children's Hospital, the central site for the Group. "We look at genetics on every level, from populations to molecules. This gives us a holistic approach to inherited disease — and the approach has paid off in many ways. For instance, we are a major diagnostic group for genetic disorders that involve folic acid or vitamin B12 metabolism. We can often diagnose and treat patients with these disorders, although we can't always cure them."

Group members have cloned numerous genes, identified the causes of many disorders, and studied treatment regimens for these disorders.

In its 32 years of operation, the group has achieved some notable breakthroughs, including the isolation and characterization of genes involved in disorders of bone, mitochondrial diseases, in amino acid and vitamin metabolism, and in birth defects and vascular disease.

"Our work has led to some very practical results," says Dr. Rozen. "For instance, one of the reasons that we have vitamin D in milk today is because of studies of hereditary rickets patients by Dr. Charles Scriver, one of the two original founding directors of the group.

"Research by our group also revealed that increasing the amount of folate in the diet can help prevent birth defects. Our work contributed to the addition of folic acid to food products such as pasta and rice in North America about four years ago."

The group is also known for its groundbreaking work in the diagnosis of inherited metabolic disorders. Group member Dr. David S. Rosenblatt of the MUHC's Montreal General Hospital runs the world's leading reference laboratory for analyzing genetic problems in the handling of folic acid and vitamin B12 problems. Scientists from all around the world send cell lines to Dr. Rosenblatt's laboratory for study.

The group also operates a major cell bank, a vast library of cellular material donated by patients over the years. "This repository is one of the group's core facilities," says Dr. Rozen. "It's an important scientific resource, both for the group and for scientists across Canada.

"Another important core is our Animal Investigation Facility, which has led to development of mouse models for human diseases and provides the resources to breed and characterize the mice that are used in many of our investigations. By operating these facilities jointly, we can achieve very significant economies of scale."

In all, the group employs about 50 researchers, fellows and students. It serves an important training function, allowing students in the seven laboratories to meet, exchange ideas and learn about a wide range of different technologies.

"The group is definitely bigger than the sum of its parts," says Dr. Rozen. "Because investigators meet regularly, we can develop a synergy that otherwise would not be present. We have grown and evolved over our years of operation, but our premise remains the same. Patients remain at the centre of what we do. They provide the information we need to do our work, and ultimately they are the beneficiaries of what we learn."

The seven principal investigators who make up the CIHR Group in Medical Genetics are Dr. Rima Rozen (MUHC, Montreal Children's Hospital site), Dr. Andrew Karaplis (Sir Mortimer B. Davis Jewish General Hospital), Dr. Robert MacKenzie (McGill University), Dr. David Rosenblatt (MUHC, Montreal General Hospital site), Dr. Eric Shoubridge (MUHC, Montreal Neurological Institute site), Dr. Mark Trifiro (Sir Mortimer B. Davis Jewish General Hospital) and Dr. Roy Gravel (University of Calgary, formerly MUHC).