Autoimmune diseases account for one of the largest burdens of chronic disease on our health system. According to Professor Chris Goodnow FAA FRS, there are more than 100 autoimmune diseases that collectively affect 10% of people.
'Yet, I could not find an explanation for why these diseases occurred in any scientific literature, let alone treatments that were targeted to the root cause and not to suppressing or poisoning the immune system broadly,' Professor Goodnow said.
This story is part of our 10 of the Best - thirteenth edition. 10 of the Best is an annual NHMRC publication, showcasing 10 NHMRC-funded health and medical research projects. See more 10 of the Best.
While there is a rapidly expanding list of targeted drugs available to treat autoimmune disease, most only work in a subset of patients.
Physicians cannot currently predict which drug will be most effective for an individual, forcing a trial-and-error journey, increases to the likelihood of permanent disability and high financial cost.
'From the start of my scientific and veterinary training I was fascinated by the cardinal feature of our immune system: its ability to learn to distinguish between "foreign" and "self" with exquisite specificity' Professor Goodnow
'Particularly attractive was that the mechanism behind this learning system was a mystery, yet failures of the system led to devastating human autoimmune diseases and blood cancers.'
Building on his previous research elucidating immune tolerance checkpoint genes and mechanisms, this NHMRC-funded research fellowship project successfully brought great scientific advances in human genome sequencing to solve life-threatening childhood autoimmune diseases.
'Laboratory studies, including analysis of mouse "avatars" for these children, revealed the mechanisms driving autoimmune disease because of these single gene changes' Professor Goodnow
The analysis of mouse avatars has been referred to by some as an 'alternate reality', increasing our knowledge about the immune system and how it operates.
Professor Goodnow's research has pioneered genome-wide analysis of the DNA sequences controlling the immune system.
He joined the faculty at the Australian National University in 1997 as Professor and the founding Director of the Medical Genome Centre and has led its development into a major national research facility – the Australian Phenomics Facility.
By being at the forefront of immunological diseases, Professor Goodnow has had some 'full circle' moments that have progressed his current research
In several other cases, the research his team has conducted has not only explained the mechanism causing the immune disease, but also identified a targeted treatment. This has proven to be highly effective at stopping severe symptoms and returning the children and their families to a healthy childhood.
Professor Goodnow is currently the Executive Director of the Garvan Institute of Medical Research, Chair of The Bill and Patricia Ritchie Foundation, Head of the Immunogenomics Laboratory at Garvan and Director of the Cellular Genomics Futures Institute at the University of New South Wales. His scientific expertise is in veterinary medicine and surgery, immunochemistry, immunology and in DNA technology.
Next steps
Over the past decade there have been important advances in genome-guided precision medicine for severe autoimmune diseases. Professor Goodnow's research aims to extend the immunogenic approach for targeted, more effective treatment of all people with autoimmune disease.
'The ability to unravel someone's whole genome did not exist five years ago, but as the technology has emerged, it has allowed us to continue expanding on a critical area of research,' said Professor Goodnow.
His research has resulted in paradigm shifts within the research field and he will continue to expand on his research through his subsequent NHMRC Investigator Grant.
Chief Investigators (CIA)
Professor Christopher Goodnow FAA FRS
Institution
Garvan Institute of Medical Research and University of New South Wales Sydney
Title
Immunological diseases: understanding their cause and improving their treatment by human genome sequencing
Team members
Professor Maria Craig
Associate Professor Paul Gray
Associate Professor Owen Siggs
Ms Amanda Russell
Dr Deborah Burnett
Dr Davinder Singh-Grewal
Grant information
$507,202
2015–2018
Research Fellowships