Rare disorder detectives

(Photo Courtesy of Genome Atlantic)

(Photo Courtesy of Genome Atlantic)

Over the past 10 years, the Government of Nova Scotia, through NSRIT, has contributed approximately $2 Million to 6 Genome Canada/Genome Atlantic-funded projects which helped leverage $34 Million in additional project funding.

One of these was the Atlantic Medical Genetics and Genomics Initiative (AMGGI), a $9.2-million project designed to find the genetic cause of some devastating rare disorders in Atlantic Canada. Based at Dalhousie University, the Nova Scotia portion of the four-year project produced 11 novel discoveries, including some key findings related to a life-threatening anemia, human brain size and evolution, aging skin and neurological disorders. Some of the discoveries have implications for other conditions, such as the discovery of a gene responsible for a visual disorder that has shed new light on cholesterol development and management, and the genetic cause of a rare developmental disorder that has unveiled the basic workings of our cells’ ability to duplicate DNA.

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