Research Project Updates - Professor Stephen Robertson

1. FLNA mutations and function

The study of filamin A, alpha gene (FLNA)mutations and function, and the mechanistic understanding of how skeletal dysplasias and neuronal migration disorders develop has attracted a further Marsden Fund grant (see Review of the Year).
 

2. Osteopathia striata congenita

Professor Robertson’s group is presently conducting proof of principle experiments to pursue the idea that in identifying the gene (WTX) involved in Osteopathia striata congenital, a disorder characterized by excessive bone formation and multiple life-limiting malformations in males, they have identified a potentially therapeutic avenue to improve bone quality at sites where bone healing is compromised.

3. Discovery of new disease genes

A new PhD student in Professor Robertson’s team, Mary Gray, is using new gene analysis platforms to search for new diseases genes that underlie multiple malformation disorders in humans. Mary has successfully located the genes mutated in a skeletal condition and a separate finding in a neuronal migration disorder similar to that caused by mutations in FLNA.  Mary will travel to Berlin for six months in 2011 to continue work on this collaboration.

4. Extra Hepatic Biliary Atresia

Professor Robertson’s team has found a large Maori family in the Bay of Plenty that segregates Extra Hepatic Biliary Atresia which is the commonest cause for liver transplantation in the Western World, including New Zealand.
It is not known what causes this disease.  The clustering of the condition in this family strongly suggest a genetic component in their instance – an insight which could assist in diagnosis of affected children in their whanau together with offering insight into the genetic and environmental triggers for the condition outside New Zealand.  The team have engaged the family, held a hapu hui and are beginning the capability building process towards beginning this study.  Professor Robertson believes this is the most exciting opportunity in his professional career to date and as a uniquely New Zealand story it offers much potential for the patients, the family and for the academic understanding of the condition.