New Canadian rare diseases portal launched

5 March 2014

A new portal for rare diseases has been launched in Canada.
 
The PhenomeCentral portal is an online database created to facilitate secure data sharing about rare diseases for researchers and clinicians. The intention is to make it easier to identify very rare disorders, whilst protecting patient privacy, using algorithms to interrogate data and identify similarities between different cases that may suggest they share a common or related genetic cause. This in turn can inform treatment, as well as the risk of disease in future family members.
 
Based in Canada, the new portal is led by researchers at the University of Toronto's Department of Computer Science and the Children's Hospital of Eastern Ontario. It was created with founding partners Care for Rare, a Canadian collaboration that aims to improve care for rare diseases; RD Connect, an EU-funded global infrastructure initiative; the US NIH Undiagnosed Diseases Program; the CARE for RARE Australia project  and the International Rare Disease Research Consortium.
 
Professor Mike Brudno of the University of Toronto said: “Many disorders are so rare that a single clinician will only see a couple of cases of that disorder over their lifetime…At the end of the day the people who will benefit the most will be the patients with these ultra rare disorders”.

The UK based DECIPHER project shares similar aims. 

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