Last updated April 17, 2018 at 11:07 am
Professor Jian Yang is the recipient of the 2017 Frank Fenner Prize for Life Scientist of the Year, an award that recognises early career researchers at the Prime Minister’s Prizes for Science.
Jian is leading the way in understanding the very nature of what makes us human. He has created pioneering new techniques to unravel that complexity and solve the ‘Missing Heritability Paradox’.
Jian’s work is at the interface of human disease genetics, statistical modelling and big data analysis. His research at the University of Queensland is highly innovative, and typically uses large human cohort studies to do two things: develop state-of-the-art methods for studying genes and to have fundamental insights into genetic questions that have been troublesome for around a century.
All living organisms are made up of genes, so understanding the genome should help answer many of the questions we have about the world around us. What are the genetic influences on our height, or on our risk of mental illness? What controls yield or stem height in wheat? What determines how many eggs a bird lays?
These days we can easily and quickly read the whole genetic code of a person, a plant, or a bird. It was initially thought that it would be easy to identify all the genes affecting inheritable traits using techniques such as Genome Wide Association Study (GWAS).
But the genome is more complex that we expected. Researchers found that for important traits in humans, they couldn’t find more than ten per cent of the genetic differences predicted by other research observing traits in families and twins. It was called the ‘Missing Heritability Paradox’. It became a significant hurdle for human genetic studies.
The way to overcome this paradox was, in theory, simple. Analyse many more genomes in much more detail. With more data, the theories around the human genetics and inheritance could be developed and improved.
But no-one thought that would be possible. The calculations would be too complex for even today’s most powerful computers, which is where Jian’s work comes in.
He developed new statistical tools that were able to simultaneously analyse multiple genetic variations without requiring massive amounts of computational power. Using these new tools he conducted multiple experiments that were able to account for the previously the missing genetic variation.
In a series of papers, he showed that for traits such as height, obesity, and schizophrenia there are a large number of associated variants across the human genome. Jian’s impact in the genetics world is illustrated by his publication history. He has published 97 papers, 30 of them in Nature or Nature Genetics and his work has been cited over 20,000 times.
His work will enable researchers to determine the genetic factors behind complex diseases, opening the way to new drugs and better genomic risk prediction. Thousands of geneticists across the planet are already using his software in their own cutting edge research.
His work opens the way to a new era of genomic analysis using tools that he has developed and made available to the wider research community. Jian predicts that his tools will be essential in developing new drugs to help people and furthering genomic risk prediction – the field of using genetic characteristics to assess an individual’s risk of having an inheritable illness.
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