Rare Diseases. Remarkable Results.

When a small group of clinicians and researchers decided to apply for funding to help crack the code of some rare regional genetic diseases back in 2005, they had no idea what their efforts would lead to.

Nearly ten years later, the pioneers of Atlantic Medical Genetics and Genomics Initiative (AMGGI) can point to countless benefits to the region, including over $15 million in new research funding, the recruitment of several experts, extensive national partnerships, a CME-accredited knowledge transfer seminar series, and a smarter way of unraveling the mysteries of genetic disease.

Topping that list is the fact that AMGGI paved the way for IGNITE (Orphan Diseases: Identifying Genes and Novel Therapeutics to Enhance Treatment) a $4.8M initiative, that was instrumental in the recruitment of Dr. Dan Gaston, a talented young bioinformatician, and Dr. Karen Bedard, a dynamic young genomics researcher whose lab has attracted some bright young minds of its own, including a recent recipient of the Rhodes Scholarship, Dalhousie University’s Michael Mackley.

Underlying all of this was the development of a new way of doing genetic research that brings in expertise from a variety of disciplines–clinicians, pathologists, bioinformaticians, pharmacologists and ethicist–for end results that are far more powerful than the sum of their parts.

The $9.2-million AMGGI project, which received $500,000 from NSRIT, is a true testament to the power of a few people with a good idea working together toward a common goal.

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