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Rare diseases

The Laboratory for Genomic Medicine is particularly motivated to improve the clinical care and visibility of rare conditions.

A side effect of the explosion in the use of genomic tools in medical practice is that many more disorders are being defined and conditions that were previously considered to be homogeneous single entities are now realised to be comprised of many separate conditions.

The study of these diseases, their genetic basis and their clinical expression, presentation and natural history are all the focus of research in our group.

We have close links with Rare Disorders New Zealand and incorporate into our research design a recognition that genetic diagnosis must be accompanied by appropriate clinical and social supports.

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