Beginning with studies performed in partnership with a whanau from the far North and centred on a rare set of syndromes causing severe life-limiting forms of malformations in children in the late 1990's, members of the Clinical Genetics Group have joined in with multiple partnerships with Māori whānau, hāpu and iwi to deliver health benefits for their communities. Current projects include:
Aotearoa New Zealand Variome Project (led in conjunction with Dr Phil Wilcox, Department of Mathematics and Statistics)
To use genomic medical diagnosis effectively and equitably, we need to understand genomic variation in New Zealand's unique and increasingly diverse population. The aim of this project is to assemble genomic resources that catalogue genetic variants present in the genomes of individuals in our communities. This will support disease diagnosis and research into healthcare conditions relevant and important to Māori and Pacific people.
Rakeiora Pathfinder Project to Improve Precision Genomic Medicine (led in conjunction with Prof Cristin Print, University of Auckland, Dr Phil Wilcox University of Otago, Dr Jennie Harré Hindmarsh, Ngāti Porou Hauroa, and Dr Donia Macartney-Coxson, ESR.
This pathfinder programme is to develop capability and infrastructure for research into personalised genomic data informed medicine.
Clinical Genomics Diagnostic Project
This pilot project offers laboratory scientists the opportunity to analyse genomic datasets from patients with real clinical problems who present to genetic services, with the ability to deliver results back to patients. The initiative targets members of disadvantaged communities to ensure equitable access to the latest technologies. This work aims to further develop New Zealand's capability to implement genomically informed healthcare in collaboration with clinicians and diagnostic laboratories.
Performance of an Enoi prior to dispatch of gifted DNA for sequencing