February 28, 2014

NEW YORK (GenomeWeb News) – Researchers and clinicians around the globe who are looking for a genetic basis for any number of rare diseases have a new resource to turn to — a web portal for genetic and phenotypic information on rare diseases developed through an international collaboration and funded by several Canadian entities.

The PhenomeCentral database is a secure and centralized repository that encourages researchers anywhere to share clinical and genetic data on the rare diseases they study and patients they treat, Genome Canada said today. It uses matching algorithms to reveal similarities between different patients’ cases.

PhenomeCentral is led by researchers at the University of Toronto’s Department of Computer Science and the Children’s Hospital of Eastern Ontario. Its contributing partners include pre-existing rare disease research programs and resources, including the pan-Canadian CARE for RARE project, the National Institutes of Health’s Undiagnosed Diseases Program, the Finding of Rare Disease Genes initiative, RD-Connect in Europe and Australia, the CARE for RARE Australia project, and the International Rare Disease Research Consortium.

CARE for RARE is a multidisciplinary collaborative group that harnesses infrastructure and discoveries from the Finding of Rare Disease Genes project.

The database is funded by the Canadian Institutes of Health Research, Genome Canada, the Ontario Genomics Institute, and the National Sciences and Engineering Research Council.

Bringing specialist researchers and clinicians together is an important aim for rare disease investigators because the more than 7,000 defined rare diseases are spread out among 350 million people around the world, according to Genome Canada.

“Clinicians will upload information and the database will automatically and anonymously match patients with similar genome and phenotypes,” Michael Brudno, PhenomeCentral’s co-lead and an associate professor at the University of Toronto, said in a statement. “This will enable faster diagnoses and simpler identification of the genetic cause of rare diseases.”

“Having the ability to refer to cases with similar symptoms, anywhere in the world, is a critical step forward for rare disease research and seeing to the care of our patients,” added William Gahl, director of the NIH Undiagnosed Diseases Program.

So far, PhenomeCentral has 81 members who have already contributed hundreds of cases that can be accessed directly or via phenotype matching.

Kym Boycott, also co-lead of the project and a geneticist at CHEO, noted that investigators in Canada have already identified more than 60 novel rare disease genes in the past two years.


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