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Diagnostic tools to advance genetics research

(L-R) Don Belanger, Dr. Gary Kachanoski, Dr. Terry-Lynn Young, Keith Hutchings and Dr. Sean Connors.

 

By Sharon Gray

Research on sudden cardiac death at Memorial University will be significantly advanced with a combined investment of $750,000 from the provincial government and the Research & Development Corporation (RDC). The announcement was made March 28 by Keith Hutchings, minister of Innovation, Business and Rural Development and the minister responsible for the RDC.

The funding will target a range of activities related to inherited diseases of the heart. In particular, the funding will support the acquisition of a state-of-the-art Next Generation DNA Sequencing Platform for the research lab of Dr. Terry-Lynn Young in the Faculty of Medicine. In 2008 Dr. Young's lab identified the gene mutation for ARVC (arrhythmogenic right ventricular cardiomyopathy), a degenerative genetic condition that causes early cardiac death, particularly in men.

"This specialized technology will increase the research capacity of the life sciences sector in Newfoundland and Labrador," said Mr. Hutchings.

"Genetic researchers in this province, and across Atlantic Canada, currently outsource all services related to Next Generation DNA Sequencing to other regions of the country, costing valuable time and money," said Dr. Young. "This funding will allow us to continue to solve genetic puzzles of medical importance to our province and the world and train the next generation of researchers at Memorial."

Dr. Young said that when the ARVC gene mutation was discovered by her lab four years ago, the work involved identifying one gene at a time and took a year. "With the funding for this new equipment we will now be able to look at all 20,000 genes in one week. It's an amazing advance."

Dr. Gary Kachanoski, president and vice-chancellor of Memorial, welcomed the funding news.

"We thank government for the support announced today and for recognizing the importance of leading-edge sciences and research tools and facilities," said Dr. Kachanoski, who hosted a news conference on campus for the announcement. "It is through strong partnerships with both the federal and provincial governments for this and other projects that we are able to conduct the groundbreaking work that we do."

Dr. Sean Connors, a cardiologist who has pioneered work in implanting internal cardiac defibrillators (ICD) in adult carriers of the ARVC gene mutation, described the 2008 ARVC gene mutation discovery by Dr. Young's lab as "absolutely pivotal" because it offered certain identification of affected individuals. The tiny ICD restarts the heart if it stops – while not a cure, this device has been very successful in saving lives.

"We know of 22 extended families with the ARVC gene," said Dr. Connors. "But it is clear that there are multiple other families affected and with this new equipment we can screen people who may be affected. We are now in a leadership role nationally and internationally."

Glenn Janes, CEO of RDC, said the new investment means genetics research and development capacity in Newfoundland and Labrador is being strengthened. "This innovative technology will provide local researchers and
our future researchers with the ability to conduct vital, genetics-based studies related to a wide variety of health conditions."

The RDC, which is a provincial Crown corporation responsible for improving Newfoundland and Labrador's research and development performance, is investing $500,000 while the Department of Innovation, Business and Rural Development is investing $250,000.

The overall value of this project is approximately $5.1 million. The Atlantic Canada Opportunities Agency, through the Atlantic Innovation Fund, has invested $3 million in this project.

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