Discovering Why Genetic Diseases Cause Malformations in Children

Background to research

Our previous work funded by Cure Kids led us to find a new gene family which when faulty causes severe malformations of internal organs, the brain, and the skeleton. Directly leading on from these results we have identified new categories of genetic disease that we are equally confident we can find the cause for. Finding a cause will mean the families involved can understand the magnitude of risk they run in having children allowing them a reproductive choice.

What are your research objectives?

Finding an answer for these families so that they know more accurately who is at risk of illness in their family tree and what steps they can take to prevent the condition arising.

How will you conduct your research?

Families with these new disorders will be studied at a molecular level to determine which genetic regions house the fault that leads to their condition. Once this region is identified, the hard work of sifting through looking for a genetic misspelling, can begin. To do this work we need the co-operation of families from around the globe along with a set of committed international collaborators.

Are there others in your field in NZ or globally conducting similar research?

No one in NZ does this sort of work but there are clinicans and scientists in the UK and USA working in similar areas and we are collaborating closely on these projects.  

What is innovative about the approach you are taking?

These diseases concerned are newly recognised due to our work in defining related entities in our previous work. In this way our research is a logical progression and represents satisfying progress.

Is there national or international collaboration on your research project?

Families have been referred from geneticists in London, Amsterdam, Seattle and St Louis so far. We are in contact exchanging clinical and scientific observations.

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