April 1, 2014
Due to the availability of low-cost genome sequencing, identification of the molecular cause of hundreds of rare genetic disorders can be an achievable goal. However, the discovery of disease-causing variants requires confirmation of the mutation in multiple unrelated individuals. Additionally, an even larger number of genetic disorders remain unsolved due to the difficulty of identifying second families. It is therefore critical to establish effective and secure data-sharing techniques that allow clinicians and scientists to identify additional families via phenotype and genotype searches.
To address this need, PhenomeCentral, co-led by Michael Brudno and Kym Boycott, and developed by the Centre for Computational Medicine at the Hospital for Sick Children in Toronto, Canada, was launched on Rare Disease Day (February 28, 2014). PhenomeCentral is a novel online system that matches patients with similar genotypes and phenotypes. Its aim is to connect clinicians and scientists worldwide working on similar cases and thereby speeding up the discovery of genes responsible for rare disorders.
In a press release published on February 28, Michael Brudno, an Associate Professor of 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, explained how this portal will work:“PhenomeCentral securely stores clinical and genetic information on patients with undiagnosed rare diseases. 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.” Dr. Kym Boycott, geneticist and senior scientist at the Children’s Hospital of Eastern Ontario (CHEO) added that “together, researchers around the world are going to successfully crack the code for thousands of patients with unsolved conditions.”
PhenomeCentral is funded by the Canadian Institutes of Health Research (CIHR), Genome Canada, the Ontario Genomics Institute, as well as the Natural Sciences and Engineering Research Council (NSERC) through the Collaborative Health Research Program. Global partners of PhenomeCentral include the NIH Undiagnosed Diseases Program in the United States, CARE for RARE Australia, Finding of Rare Disease Genes (Canada), RD-Connect (Europe and Australia), and the International Rare Disease Research Consortium.
Read the press release