New web portal to speed discovery of genes responsible for rare disorders

A new web portal - called PhenomeCentral - is being launched today to connect clinicians and scientists worldwide in an effort to speed the discovery of genes responsible for rare disorders.

More than 350 million people suffer from over 7,000 rare diseases worldwide and the genetic cause for at least half of these diseases is still unknown representing an enormous unmet medical need. According to the International Rare Disease Research Consortium (IRDiRC) there is a global push to identify genes for most genetic diseases by 2020, and PhenomeCentral represents a critical first step.

"PhenomeCentral securely stores clinical and genetic information on patients with undiagnosed rare diseases," said co-lead Michael Brudno, an associate professor with the University of Toronto's Department of Computer Science who also holds an appointment in the Centre for Computational Medicine at The Hospital for Sick Children. "Clinicians will upload information and the database will automatically and anonymously match patients with similar genome and phenotypes. This will enable faster diagnoses and simpler identification of the genetic cause of rare diseases."

"We see patients affected by extremely rare or even new, undescribed disorders. 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," said William Gahl, director of the Undiagnosed Diseases Program at the National Institutes of Health (NIH) in Bethesda, Md.

Rare disease research is conducted in disparate centres all over the world, but the rarity of the conditions makes it imperative for researchers to collaborate in a timely and reliable way. "Being able to 'plug in' a tool like PhenomeCentral to our data-sharing platform means that we can make use of the power of its match-making abilities to find similar patients and advance research," said Hanns Lochm-ller, coordinator of the EU-funded RD-Connect project.

"Canada has already identified over 60 novel rare disease genes in the past two years," said Dr. Kym Boycott, co-lead of PhenomeCentral , geneticist and senior scientist at the Children's Hospital of Eastern Ontario (CHEO). "PhenomeCentral was born out of CARE for RARE which is a pan-Canadian research initiative that goes beyond identifying rare disease genes to develop treatments for better health outcomes. It's exciting to see how the rest of the world is fully supporting PhenomeCentral and contributing data. Together, researchers around the world are going to successfully crack the code for thousands of patients with unsolved conditions."