The Interdisciplinary Research Team in Human Genetics, led by Dr. Patrick Parfrey, associate dean for clinical research, will receive up to $3 million over five years from the Atlantic Innovation Fund. This money will contribute to the development of new research space and the development of a data management centre.

Dr. Parfrey is heading up an interdisciplinary team in human genetics to develop a system of research into both inherited and complex genetic diseases in Newfoundland and Labrador. While the end result is expected to be an improvement in population health, there is also the potential for significant economic value in the commercialization of the research. Total estimated costs are approximately $22.6 million.

Dr. Parfrey explained that the project developed out of work done on the Atlantic Medical Genetics and Genomics Initiative (AMGGI), a unique initiative to systematically identify genes and genetic mutations underlying familial, monogenic disorders arising in populations and communities throughout the Atlantic Provinces; and the Colorectal Cancer Interdisciplinary Health Research Team, a multidisciplinary multi-site study into colorectal cancer in Newfoundland and Labrador and Ontario.

 “We are now trying to move on to the next level to improve population health,” said Dr. Parfrey. “The question is if we find genes, can we develop molecular genetic diagnostic tools and provide diagnostic or therapeutic information to family members. In effect we want to establish a research–based community genetics program.”

Using a population-based approach, the research team will determine the genetic basis in Newfoundland and Labrador of colorectal cancer, sudden cardiac death, deafness, blindness, pulmonary fibrosis, epilepsy and Tourette’s syndrome. Research will determine the genes which predispose to complex diseases including obesity, diabetes mellitus, arthritis, psoriasis and adverse drug reactions. An integral component of the research is to determine the broad ethical, environmental, economic, legal and social issues associated with the uptake of genetic services by heath care practitioners, patients, families and communities.

The purpose of the research team is to develop a system of research which applies molecular genetics research in the clinic and the community, to improve the population’s heath and realize economic value through its commercialization. To this end, the team will develop mutation detection chips and molecular assays capable of predicting severe autosomal dominant and recessive diseases in the province and make those tests available to the population; determine the impact of clinical screening in carriers of high risk mutations in families; and determine the value of prospective genotyping in predicting drug responses in order to decrease adverse events and enhance drug efficacy.

In addition to Dr. Parfrey, team members include molecular geneticist Dr. Terry-Lynn Young, clinician scientist Dr. Proton Rahman; medical ethicist Dr. Daryl Pullman, nephrologist and clinical epidemiologist Dr. Brendan Barrett, and clinical research program manager Elizabeth Hatfield. The team also collaborates with the private sector (Newfound Genomics in St. John’s) and with research teams across Canada and Europe including those in Halifax and Montreal, Toronto, Lac St. Jean-Saguenay community genetics group, Genome B.C., Genome Alberta, Genome Quebec, University College Cork in Ireland, and the University of Manchester in England.