February 28, 2014
Novel web portal will advance knowledge and treatment of rare diseases
By Rebecca Milec
Imagine the frustration for clinicians who have before them a disease so rare they have never seen a case in their career, don’t know what it is or how to treat it. Imagine the frustration for patients!
There are more than 7,000 rare diseases worldwide, and over 350 million individuals worldwide suffer from them. In order to discover the genes responsible for these rare diseases, a team of Canadian scientists led by Dr. Michael Brudno of SickKids and the University of Toronto have developed PhenomeCentral.
This web-based portal allows clinicians and scientists around the world to collaborate as they study and treat rare diseases. It was developed within CARE for RARE, a pan-Canadian research initiative led by Drs. Kym Boycott and Alex MacKenzie from the Children’s Hospital of Eastern Ontario (CHEO) and the University of Ottawa. Other participants in PhenomeCentral include the National Institutes of Health Undiagnosed Diseases Program, the pan-European RD-Connect Consortium and Care for Rare Australia.
Clinicians can input patient data into the program, highlighting patient symptoms, and can even input the patient’s genetic data. PhenomeCentral will act like a “matchmaker,” finding other patients around the world with similar symptoms. When the clinician gets a match, the system will only show the symptoms that the two patients have in common, and how similar the symptoms are. Then, if a clinician feels the patients are similar enough, he or she can contact the person who input the other patient’s information and discuss the case.
“Because rare disorders are so uncommon, it is quite likely that the few patients worldwide with a given disorder live in different countries and are seen by different clinicians, who may not even know each other,” says Brudno. “Some of these patients go years, or even decades, without a diagnosis, and consequently without proper treatment and support. We are hopeful that by integrating the data from around the world we can make this happen faster.”
PhenomeCentral will give clinicians a new avenue to help their rare-disease patients find answers. While similar databases exist, they simply allow the input of patient genomic data and search for similar genetic variants, with minimal phenotype data. PhenomeCentral is the first portal of its kind where the clinician’s submission is the search and collects extensive phenotype and genotype data to enable automated matching.
“PhenomeCentral will have a huge benefit to patients,” says Dr. Roberto Mendoza, Staff Geneticist, Clinical and Metabolic Genetics, at SickKids. “Patients with rare diseases want answers about their disease and to be able to talk to other patients with the same condition. With this ‘virtual meeting place’ clinicians will be able to connect their patients with others just like them, providing more answers and better treatment.”
The launch of the new portal is taking place on Rare Disease Day 2014, Friday February 28.This day is dedicated to raising awareness about rare diseases and the impact they have on patients’ lives. It was first launched in 2008 by Rare Diseases Europe (EURORDIS) and its Council of National Alliances. Since then, over 1,000 events have taken place worldwide. The day has contributed to the advancement of plans and policies for rare diseases in many countries. EURORDIS is hoping that the World Health Organization will recognize the last day of February each year as the official Rare Disease Day.
Learn more about Rare Disease Day.