Our research programme seeks to directly improve the clinical care of children with genetic conditions. The effects of these conditions can impact a child's health throughout their life and can indirectly impact on the function and health of their whānau and families. Our aims are to improve the speed, accuracy and timeliness of diagnosis for these children and to add to the knowledge of these conditions so that the clinical care of these individuals can be improved. We seek to achieve this through arriving at a deeper understanding of the genetic determinants that underlie genetic diseases and the mechanism by which they cause disease. For some of these conditions we hope that our work will contribute to the development of treatments in the near future.
Approximately 3% of children are born with some kind of structural or functional impairment to their health that requires significant medical intervention. Some of these occurrences can be readily ascribed to a known genetic or environmental cause, but for the vast majority the reason for their occurrence is unknown.
In order to solve some of these mysteries we endeavour to find the genetic changes (mutations) that underlie relatively rare, but strongly genetic, forms of malformations. Once identified, we undertake a variety of functional and genetic approaches to understand the mechanisms by which these mutated genes cause diseases. Our work extends to the clinical care of these children, activity that is enhanced by our interactions with a large network of collaborating physicians the world over.
A strong theme that underpins much of our work are our collaborations and partnerships with Māori. We recognise that Te Aö Māori brings unique and distinctive perspectives to matters surrounding genetic conditions and genetic research in general. Our response has been to partner with several Māori organisations to advance culturally appropriate research to improve genomic medicine for their communities.
The types of conditions we study and our research themes are constantly changing. A few of our headline projects are listed here:
- Disorders caused by mutations in the gene FLNA
- Disorders caused by mutations in FLNB
- Malformations affecting the brain – periventricular neuronal heterotopia
- Conditions affecting the development of the skeleton
- Biliary atresia and other disorders affecting the digestive system
- Partnerships and projects with Māori