Visscher eyes Eureka science prize

1 Aug 2012

Visscher eyes Eureka science prizeProfessor Visscher and his team from The University of Queensland Diamantina Institute (UQDI), the Queensland Brain Institute (QBI) and the University of Melbourne, have been named finalists in the 2012 Australian Museum Eureka Prize.

The Prizes are presented annually and reward excellence in the fields of research and innovation, leadership and commercialisation, school science and science journalism and communication.

The team was recognised for their work in development and application of elegant statistical methods to explain differences between individuals in complex traits. such as height and schizophrenia.

"We are delighted and honoured to be shortlisted for the Eureka prize in the category of Scientific Research. This is a form of recognition quite different from the usual one of publication of peer reviewed scientific papers," says Professor Peter Visscher.

Their research has important implications across a wide range of fields, including genomic medicine, agriculture and evolutionary biology.

The issue of 'missing heritability' has been bothering human geneticists for many years. For many people, complex traits such as height, obesity and blood pressure and common diseases like diabetes, psychiatric disease and autoimmune diseases, are due to genetic factors. Therefore, heritability of diseases is high.

Yet powerful genome-wide genetic screenings have only found a handful of genes that are implicated, and these genes together only account for a small proportion of the heritability. Despite the huge increase in the power of molecular biology, the gap between knowledge of DNA variation at the observed understanding level was unexpected. This could imply a fundamental misunderstanding of the laws of inheritance in these diseases.

Professor Visscher and his colleagues have shown that the cumulative effect of many genes, each with a tiny effect on the trait, can account for a large fraction of the heritability. They used sophisticated statistical techniques, commonly used in livestock genetics, and adapted them to answer the question of heritability for human traits. 

Visscher says the method takes advantage of the old adage “we are all related to each other, if you go far enough back”, and uses the DNA data to estimate those relationships. Applications have been on a wide range of complex traits, from human height and cognitive function to schizophrenia and other diseases.

"I have been privileged to make important scientific discoveries in my work with the Brisbane and Melbourne based researchers," says Jian Yang from UQDI, who came to Australia in 2008 as a postdoctoral researcher.

Professor Visscher adds, "Although our team comprises five researchers, the work we did could not have been done without the collaboration of hundreds of researchers throughout the world who amassed the kinds of data we have used in our research."

“Our work in psychiatric genetics has been paradigm-shifting, showing that a substantial proportion of differences in risk between people is due to the cumulative effects of many genes, each with a small effect,” says QBI-based team member, Associate Professor Naomi Wray.

“Not only do our results inform about the nature of genetic risk factors for disease, they also have implications for translation.”

The winners of the Eureka Prizes will be announced on August 28, 2012.