New Canadian Medical Center Sets its Sights on Treating Rare Diseases

According to a story from Ottawa Citizen, the CHEO Research Institute has recently begun operations at its Centre for Genomic Innovation. Much of the the center’s operations will focus on diagnosing and treating rare diseases. Last Thursday, the organization celebrated the completion of the center’s first genomic test for a patient. The patient was Eli Lincoln, who was diagnosed with benign hereditary chorea, a disease so rare that only 25 people in the world are known to have it.

Tackling The Rare Disease Challenge

The opening of the Centre for Genomic Innovation symbolizes a valuable new resource for the diagnosis of rare diseases. While the number of patients that have an individual rare disease may be small, there are over 7,000 diseases known to science that are considered rare. Therefore, millions of people around the world are impact by rare diseases. About a third of rare diseases still have no known cause and two thirds of them can inflict serious disability. Many rare disease patients are children; about a third of kids that are diagnosed do not survive beyond their fifth year of life.

Getting Diagnosed

Diagnosis is a big problem for patients with rare diseases. Lack of awareness means that many doctors are unfamiliar with them. Many patients receive diagnoses for more common diseases that share similar symptoms with rare ones. Diagnosis for rare disease patients is often delayed, sometimes for several years in some cases. The consequences of delayed or incorrect diagnoses can be fatal.

The creation of the Centre for Genomic Innovation was the result of CHEO’s awareness of the major challenge that diagnosis can be for rare disease patients. A third of the kids that are at the pediatric in-patient unit at CHEO have a rare disease. The new center is not only helping rare disease patients get diagnosed. The center will also be developing ways to speed up the genome sequencing process (which currently takes several months) so that results can be available in just a couple of weeks. The center also hosts the MatchMaker exchange, a system that allows doctors to collaborate to help match genetic variants with different diseases.

Eli’s parents Richard and Judy were incredibly relieved to finally put a name to health problems that their son had been facing. Eli’s experience as a patient has helped motivate him for the future: he says that he hopes to become a scientist one day.

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