WATCH ABOVE: An online tool for researchers is bringing together the brightest minds in the world to help cure and understand rare conditions. Peter Kim reports.
TORONTO – Sometimes doctors come across a combination of symptoms they haven’t seen before. A new made-in-Canada database aims to help by logging and tracking a growing library of rare diseases.
More than 350 million people suffer from 7,000 rare diseases worldwide and the genetic cause for at least half of these diseases is still unknown. This is where Phenome Central comes in.
It’s an online database that acts as a hub to bring doctors and scientists working on rare disorders together, Dr. Mike Brudno told Global News.
Brudno is a professor at the University of Toronto and a researcher at the Hospital for Sick Children. The Children’s Hospital of Eastern Ontario (CHEO), along with other organizations in Australia and Europe also helped to develop the portal.
Doctors log on, describe their patient and then upload the patient’s genome. That way, the database can consider the genetic cause of their disease.
Other patients anywhere else in the world with similar characteristics might be in the system – their information stays private but the doctors can connect and even collaborate in piecing together what they know about the rare disease.
“Many disorders are so rare that a single clinician will only see a couple of cases of that disorder over their lifetime,” Brudno said.
“At the end of the day the people who will benefit the most will be the patients with these ultra rare disorders,” he explained. The database will, ideally, help doctors diagnose and treat patients who in most cases would have left the hospital without any insight on their condition.
It’s the latest in a string of advances in telemedicine. Doctors are turning to Skype and webcams to help their less-skilled colleagues in the developing world carry out surgeries. Patients in remote areas receive primary care through online interviews and doctors can even keep tabs on people with chronic conditions through apps that track blood pressure or blood sugar levels.
Right now, researching rare diseases is a disjointed effort – it’s studied all across the globe but the rarity of the conditions makes it tricky to collaborate and in a timely way. The Canadian researchers say their hope is the database can act as a platform for growing bodies of research to be stored.
“I think it’s remarkable how much medicine is changing due to computers. It’s something that helps enable better patient-doctor interaction,” Brudno said.
Phenome Central grew out of CARE for RARE, a pan-Canadian research initiative that started with recording the health data of patients with rare diseases.
Any clinician can join Phenome Central, and they’ll be able to submit their case reports to the network.