To a greater or lesser degree genetic factors influence almost every disease known to affect human beings. Medicine is rapidly approaching an era where assessment and measures of genetic factors will help define susceptibility or resilience to the development of these conditions. The Laboratory of Genomic Medicine specialises in research that will underpin this transition in medical practice. Its work includes a focus on the genetic underpinnings of disorders with a particular emphasis on conditions that affect children. Although many of these conditions are typically rare, in aggregate they account for a sizeable fraction of morbidity in the community. The era of large-scale DNA sequencing in addition to other powerful experimental methods has brought an unprecedented opportunity to define their cause and study their pathogenesis and translate this understanding into clinical practice.
We have a particular interest in conditions that affect neurodevelopment but also those that are characterised by malformations of a broad variety of organ systems. We have particular expertise in a group of disorders called the filaminopathies. These are caused by mutations in a family of genes encoding proteins called filamins. Somewhat unexpectedly, genetic changes in one of the filamin genes causes both disorders of brain development and bone development. Our evolving interest has led to a programme of research that studies the development of both of these organ systems. Insights gained from these disorders have filled gaps in understanding how bone develops in response to chemical and mechanical forces, and in parallel how stem cells in the brain produce neurons that in turn build the human cerebral cortex.
Other research relates to studies on the structure and function of the gastrointestinal tract and also the practicalities of drawing genomics into clinical practice, especially for children. As a research group that is strongly supported by the wider Aotearoa Community we recognise a particular responsibility to ensure that medicine adequately and equitably serves Māori and Pacific whānau. We have strong and extensive research programmes that place this aim as a central and primary outcome.
We have close links with clinicians worldwide who submit samples to our research programme, making clinical translation a key component of our work. Insights gained from our studies have the ability to define risk of recurrence and prognosis for the families affected by these disorders.
Ultimately our ongoing studies of the mechanisms by which genetic factors lead to developmental diseases will further inform the development of diagnostic and therapeutic strategies for diseases with the continuing aspiration that medicine must constantly strive to be more accurate, precise and personalised.
Nature Genetics, 45(11), 1300-1308
We are funded by: