Genetic metabolic disorders

Group leader: Professor John Christodoulou

Using cutting edge genetic technologies, we have discovered a number of disease genes for rare genetic disorders, some of which are world firsts, some of which led to institution of specific therapies, and all of which have improved our understanding of the genetic risks to other family members.

We have developed a new approach to treating the inborn error of metabolism, phenylketonuria (PKU).  All babies in Australia are screened for PKU.  Our new therapy, a genetically modified probiotic, is currently undergoing preclinical trials, and is showing promising results.  This research is being undertaken in collaboration with Associate Professor Kevin Carpenter from the NSW Biochemical Genetics Service.