We are currently researching into

Genetic Conditions

One in 30 children are born with a congenital malformation, many life-threatening, requiring long-term health treatment.

Funding Amount:

$810,805.00

In Progress Research

Setting the scene for better cystinosis treatment

Dr Jennifer Hollywood University of Auckland Cystinosis is an abnormal build-up of the amino acid cysteine, resulting in tissue damage throughout organs of the body. It is caused by a gene mutation. Children with cystinosis are at risk of bowed bones and rapid kidney dysfunction. Current treatments only delay kidney damage and come with many side effects. Repurposing an organ-rejection…

Looking at genetic links to growing up very short or very tall

Dr Louise Bicknell University of Otago Due to advances in DNA sequencing, researchers are finding out more about the origins of conditions suspected to have a genetic component. This includes learning about the genetics of children who are either very short or very tall. Being extremely short or tall can significantly affect quality of life, especially for those at the…

Light at the end of the Tunnel – determining the genetic cause for Childhood Retinal Blindness

Associate Professor Andrea Vincent University of Auckland What is the problem and who does it affect? Childhood blindness due to inherited retinal disease affects around 3-4 children in every 10,000. These diseases constitute a significant social and economic burden. Besides the obvious difficulties, children can also feel socially stigmatised because of their vision impairment. Other research highlights poorer health outcomes…

Does lack of oxygen help Pseudomonas aeruginosa survive antibiotic treatment in cystic fibrosis?

Professor Iain Lamont University of Otago, Dunedin What is the problem and who does it affect? Cystic fibrosis (CF) is the most common inherited disease, with around 500 New Zealanders, including many children, living with this condition. CF results in the malfunctioning of many bodily organs including the digestive tract and lungs. Characteristic of CF is the presence of excessive…

Inherited heart conditions – National Screening Programme

Professor Jon Skinner ADHB and University of Auckland What is the problem and who does it affect? Tragically, each year 100 children and young people are lost to sudden an unexpected death as a result of inherited heart conditions. Many of these conditions are still unexplained, and often the first symptom is death, allowing no recourse of treatment. Yet if…



Recently Completed Research

Investigating a novel gene therapy in a form of Batten disease

Dr Stephanie Hughes University of Otago, Dunedin What’s the problem and who does it affect? Batten disease is a rare inherited neurological condition which robs seemingly healthy young children of the ability to walk, talk and feed, invariably leading to premature death around the age of 8-12 years old. There is no cure and no current effective treatments. Dr Stephanie…

Towards human translation of gene-therapy for Batten disease

Associate Professor Nigel Anderson, Dr Nadia Mitchell & Professor David Palmer University of Otago, Christchurch What is the problem and who does it affect? Batten disease is a rare inherited neurological condition which robs seemingly healthy young children of the ability to walk, talk and feed, invariably leading to premature death between infancy and early adulthood. There is no cure…

Early detection of bacteria in the lungs using a non-invasive breath test?

Dr Amy Scott-Thomas University of Otago, Christchurch What is the problem and who does it affect? Cystic fibrosis (CF) is a common life-threatening genetic disease that is estimated to affect over 400 New Zealanders, where just under half of these are children. Cystic fibrosis can be an extremely debilitating disease with symptoms including failure to gain weight, abnormal bowel movements…

Innovative therapies for Batten disease and childhood epilepsy

Dr Stephanie Hughes University of Otago, Dunedin What is the problem and who does it affect? Both Batten disease and epilepsy are neurological conditions. Epilepsy is a highly prevalent disease in New Zealand, affecting both adults and children. About 450 New Zealand children develop the condition each year. One third of those affected have seizures with major social, psychological, physical…

A novel gene therapy for Batten disease

Dr Stephanie Hughes University of Otago, Dunedin What is Batten Disease? Batten disease is an inherited neurodegenerative childhood disorder. Although quite rare, its impact is always devastating. The progression of symptoms includes, losing the ability to walk, talk and feed, invariably leading to premature death. No effective treatments exist, however, promising gene-therapy research funded by Cure Kids has proven curative…



Real stories of kids living with Genetic Conditions

Angus

Brave ambassador Angus was diagnosed with Neurofibromatosis Type 1 at age four.

Learn More

Ben

At four months old Ben went into heart failure and was flown to Starship…

Learn More

Caleb

In 2012, Caleb began to feel dizzy and experienced tunnel vision while playing sports.…

Learn More

Connor Lehan

Connor was initially labeled as a ‘problem child’ during his kindergarten years. He was…

Learn More

Connor Morton

Connor was only a year-old when he started to experience jolt like symptoms.

Learn More

Corin

One afternoon during feeding he went blue and was rushed to the hospital. This…

Learn More