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Skeletal development – characterisation of new disease genes

For many mendelian disorders, gene mutations causing these conditions have still not been identified.

We are employing a broad diversity of techniques to identify new disease genes underlying a broad range of congenital malformation disorders. We are employing linkage mapping, whole genome arrays, exome and genome sequencing, and candidate gene evaluations to investigate these problems.

xray Head and limb

Genetic linkage example

Funding by Cure Kids, HRC and the Marsden Fund

Cure Kids logo  Health Research Council logo  Marsden Fund logo