NZORD board member Professor Stephen Robertson is a world-renowned paediatric geneticist.

"What we're about is helping people understand and live with disability as best they can, and part of that's through giving information about what causes it," says Professor Robertson.

Based at Otago University, Professor Robertson has been the Curekids Professor of Paediatric Genetics since 2003. His work focuses on studying the genetic basis of a set of genetic disorders characterised by severe life-limiting malformations in children.

"All of this activity illustrates that so called genomically-informed medicine has arrived and can lead to more accurate, earlier and more efficient diagnoses for children, especially," he says.

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Rare Disorders NZ is the collective voice of all people living with a rare disorder and their whānau. Our rare collective is made up of more than 150 disorder-specific support groups.

Our work is informed by the issues important to our collective. We work together to improve healthcare and wellbeing for everyone living with a rare health condition in New Zealand.

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