Using next generation sequencing technology, Bennett and his team are decoding how changes in our genetic code alters the function of those genes. They are developing new genomic assays to uncover the role of certain DNA variations in genes causing serious inherited conditions, with a focus on preventable or treatable disorders. One such disorder is biotinidase deficiency, which can lead to intellectual disability in children if biotin (or vitamin B7) is not supplemented in their diet early enough.
Establishing links between DNA changes and genetic disorders will allow earlier diagnosis of inherited conditions, and expand the clinical usefulness of genomics in preventive medicine.
Bennett co-founded the genetic screening startup company, Genepath Laboratories.
For further information please contact
E: b.shum@unsw.edu.au
