Diagnosing rare diseases is about to get easier

Identifying rare diseases is often a "diagnostic odyssey", says Dr Zornitza Stark from the Victorian Clinical Genetics Service. But the use of genomic sequencing is set to change all that.

Australian Doctor: What kind of rare conditions do you diagnose?

Dr Stark: Kabuki syndrome, Cohens syndrome, Klinefelter syndrome ... some of these conditions have only 20 people in the world diagnosed with them, so they’re extremely rare.

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