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

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…

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…

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…

Human gall balder epithelium treatment of haemophilia

Emeritus Professor Bob Elliott University of Auckland What is the problem? Haemophilia A (HA) is an inherited blood clotting disorder, which mostly affects boys due to its mode of inheritance. Blood-clotting is the body’s response to the breaking of a blood vessel. It helps prevent excessive bleeding by way of platelets – types of blood cells in your blood –…



Recently Completed Research

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…