Research

Kiwi kids catch up with Williams syndrome research

August 5, 2022

Researchers tracking the development of young children in Australia and New Zealand with Williams syndrome are returning to New Zealand to catch up on lost COVID time with Kiwi kids.

The research is being led by Associate Professor Melanie Porter, a senior clinical neuropsychologist, and clinical neuropsychology intern and PhD candidate Jessica Reeve from Macquarie University in Sydney. Jessica recently submitted her PhD study on Williams syndrome.

New disability housing and health research is grim reading

August 5, 2022

Three new research reports on housing and health affecting disabled people have been released without any public launch, despite the wishes of the disabled people’s organisations involved.

They make for grim reading, revealing a level of desperation that will be uncomfortable for many because the issues they raise, many of them tangled together, aren’t easy to fix.

New technology gets closer to the causes of genetic disorders

August 5, 2022

Eight families have diagnoses for rare genetic disorders thanks to the latest work by a team of researchers at the University of Auckland.

The DNA of 25 people with undiagnosed intellectual disability from 19 families was studied using advanced genome sequencing and analytical methods. The project aimed to uncover the genetic causes of the neurodevelopmental conditions and improve the health of these individuals. The study was funded by the IHC Foundation.

Whitney tracks the missing pieces

August 5, 2022

Scientist Dr Whitney Whitford is skilled at finding missing pieces of DNA.

Her complicated version of a jigsaw puzzle involves things called copy number variants (CNVs). They are responsible for the duplications and deletions of genes or parts of genes that cause neurodevelopmental disorders.

As a PhD student at the University of Auckland Whitney developed a filtering and annotation system – called a ‘bioinformatic pipeline’ – to find and track CNVs in individuals with neurodevelopmental conditions.

Gene team finds the answer to a 12-year-old puzzle

February 28, 2022

The Sterne family has spent much of the past 21 years wondering whatever happened to Luke. Now, thanks to genetic researchers, they have the answer.

“When he was born I was a week overdue and he was severely growth-retarded, severely underweight,” says Luke’s mother Nicola Sterne.

Nicola was 33 when Luke was born in 2000, the Sternes’ second child. Nicola says she recalls feeling there was something wrong. “He was induced. It was a horrific time.”

Autism community has direct input into research

December 1, 2021

Autistic people are participating in a University of Canterbury project to highlight their priorities for future autism research.

This year researchers have been talking directly to autistic people and the autism community to find out what is important to them.

Working with a $29,000 grant from the Health Research Council, the research team ran a series of focus groups between May and July to gather views and is now casting the net more widely with a nationwide online survey.