15 Apr 2024

Otago researchers involved in solving a rare genetic condition

From Afternoons, 1:25 pm on 15 April 2024

Academics from around the globe have joined forces under the lead of Otago University to get to the bottom of a rare genetic condition.

It's called Glutamine Synthetase Stabilization Disorder, and it can cause seizures and delayed development in those born with it.

Until now relatively little has been known about it - enter Dunedin School of Medicine PhD candidate Amy Jones.

Thanks to her research, the cause of the disorder has been discovered, offering hope to families with it and those who will be diagnosed in the future.

no caption

Photo: 123rf

Get the RNZ app

for easy access to all your favourite programmes

Subscribe to Afternoons

Podcast (MP3) Oggcast (Vorbis)