Solving the paradox of the missing heritability
Published 15th November, 2012
A University of Queensland researcher has won the $25,000 Centenary Institute, Lawrence Creative Prize (CILC Prize) at a function in Sydney.
Dr Jian Yang, a research fellow from the Diamantina Institute at The University of Queensland, has solved one of the great puzzles of human genetics—why the genes typically implicated in inherited diseases like schizophrenia, obesity and diabetes only account for a small amount of their heritability.
Dr Yang, who is currently overseas, developed statistical software to analyse genetic data in a different way.
This showed that inheritance of these complex conditions depends on tens and sometimes hundreds of genes which all contribute a little bit to the risk of developing the disease.
So researchers need to sift through samples of a much greater size to find them all. The heritability was not missing, but hiding in the data.
His findings have completely changed the approach to determining the human genetics of complex conditions.
The research is so significant that in the past five years he has been an author on three papers in Nature, six in Nature Genetics and two in The American Journal of Human Genetics.
The UQ Diamantina Institute Director Professor Matt Brown said “We are very excited that the excellence of research activity at The University of Queensland Diamantina Institute is being recognised on a global stage."
“This is a great reflection on the Institute and the University and shows that our investment in genomic medicine is coming to fruition.”
Dr Yang said that the scientific environment in Australia was comparable to the US and UK.
"In my field—statistical genetics or human genetics—Australia is a leader," he said.
"And it is very nice here."
“The award has given me encouragement, and suggests that my research has been accepted by medical researchers, and that myself and my colleagues have been recognised.”
The work has direct consequences for the designing the right experiments in medical genetics, according to Jian's supervisor and mentor, Professor Peter Visscher.
“His approach takes the whole genome into account, whereas previously people took one genetic variant associated with a disease at a time."
"Jian's was the crucial statistical approach that answered the question.”
“It's quite interesting that both Jian's and my own background are in agricultural genetics—and we borrowed the techniques from there,” Professor Visscher said.
“The scientific judging panel has been astounded at the quality of the applications.
"Jian Yang is a worthy winner,” said Centenary Institute Executive Director, Professor Mathew Vadas.
Originally from China, Dr Yang received his BSc in biological science (2003) and PhD in agriculture (2008) both at the Zhejiang University in Hangzhou, west of Shanghai.
He came to Australia in 2008 to do a post-doctoral fellowship at the Queensland Institute of Medical Research and moved to the Diamantina Institute in 2011.
The Centenary Institute Lawrence Creative Prize is an exciting new initiative to promote medical research in Australia and recognise the young talent that already exists in the field.
The Prize is in honour of Neil Lawrence who was the Inaugural Chairman of The Centenary Institute Foundation.
Neil and his wife Caroline hold Centenary Institute very near to their hearts, as they are both passionate about advancing the field of medical research so that all Australians can live longer, healthier lives.
The Centenary Institute, Lawrence Creative Prize (CILC Prize) is for young biomedical researchers who have displayed outstanding originality and are able to demonstrate that their thinking has made a significant change in their field.
For a short video and some online images, please visit: http://www.scienceinpublic.com.au/media-releases/lawrencecreativeprizewinner