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Success Stories

Teamwork solves the riddle of SIFD

If it takes a village to raise a child, in research, it takes team collaboration. Teamwork and new perspectives can rocket discoveries forward and help make incredible progress. At the CHEO, we see progress every day that directly benefits our patients. 

Dr. Pranesh Chakraborty, a metabolic physician and Director of Newborn Screening Ontario, and his team partnered with clinicians and researchers at CHEO, to determine that mutations in a specific gene were likely responsible for causing SIFD (sideroblastic anemia, immunodeficiency, fever and developmental delay) in one of the young patients at CHEO.

Dr. Chakraborty’s lab, with the help of Dr. Martin Holcik’s Molecular Biomedicine lab, was able to rapidly kick-start the needed research – something neither could have done alone.

As one team, they were successful in their quest. And in 2014 they proved their hypothesis that the cause of SIFD is mutations in a specific gene. Their success came from teamwork not just across CHEO, but across borders. The CHEO team joined forces with researchers in Boston and clinicians around the world to make this discovery. 

Like modern-day Sherlock Holmes, these researchers are medical detectives examining the clues in our genes to identify those which cause rare diseases. This kind of teamwork embodies CHEO’s values, and allows doctor and researchers to expand the field of medicine, and in particular rare disease research, at the pace they do.

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