McGill, Enobia Pharma collaborate to develop treatments for serious genetic bone diseases

Enobia Pharma taps McGill expertise in developing first effective treatment for rare genetic disorder

Dr. Marc McKee, of McGill's Faculty of Dentistry and the Department of Anatomy and Cell Biology, is collaborating closely with Enobia Pharma Inc, a Quebec biotech company, to develop innovative treatments for serious genetic bone diseases. McKee's research looks into the reasons why calcium-phosphate mineral fails to crystallize properly to form strong bones and teeth. While osteoporosis later in life is an example of bone density deficiency, this research applies to patients, especially children, who never properly mineralized their skeletons to begin with.

The field is known as biomineralization and it involves cutting-edge, nanotech investigation into the proteins, enzymes and other molecules that control the coupling of mineral ions (calcium and phosphate) to form nano-crystals within the bone structure. The treatment, enzyme replacement therapy to treat hypophosphatasia, is currently undergoing clinical testing in several countries including Canada. Hypophosphatasia is a rare and severe disorder resulting in poor bone mineralization. In infants, symptoms include respiratory insufficiency, failure to thrive and rickets.

Luckily, McKee explains that "Montreal is a world-leader in the biomineralization field, having attracted some of the top international specialists." His collaboration with private and public sector experts is enabling real progress to be made with stunning and heart-warming results for the victims of this terrible affliction. Although hypophosphatasia is thought to only affect one in 100,000 people, McKee says that "research in this area is not just about this disease - we are opening doors to the development of treatments for all kinds of problems related to the crystallization of minerals in the body, including seemingly unrelated areas such cardiovascular diseases, arthritis and even kidney stones."

McKee's research program is a concrete example of how university researchers are working with private sector partners as an integral part of Canada's innovative knowledge economy, and the positive outcomes their collaborations can offer. McKee's research is funded in part by the Canadian Institutes of Health Research.