Cutting-edge CHEO research finds ‘rare amongst rare’


Ottawa, Ontario — Thursday February 29, 2024

For the Osborne family, it took over a decade to complete the puzzle of Austin Osborne’s condition.

Austin was first seen by the genetics team at CHEO in 2007, and was suspected to have Joubert syndrome, but genetic testing at the time was negative for mutations in the genes known to cause this rare brain malformation syndrome. In 2013, his younger brother Parker unfortunately died of what was believed to be the same condition.

“When we lost Parker, we wanted his death to make a difference for other families going through the same thing as us, so we made sure we could donate samples from him for research purposes. This opened new opportunities for finding answers,” said Lincoln, Austin’s dad.

And it did. Every year, researchers at CHEO learn more about genes that cause rare diseases and implement new cutting-edge genomic technologies that make new diagnoses possible.

Read the full story about Care4Rare, a team focused on improving the diagnostic care of rare genetic disease patients in Canada and around the world.

Cutting-edge CHEO research finds ‘rare amongst rare’ – CHEO

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