Gene discovery offers new hope for Aussies living with chronic skin disease

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Scientists from The Australian National University (ANU) supported by Phenomics Australia have discovered a gene mutation is responsible for causing psoriasis – a chronic inflammatory skin disease that causes patients to develop red, scaly and itchy patches across their body.

This article was originally published in the ANU Reporter.

The NCRIS supported Phenomics Australia infrastructure, including the Australian Phenomics Facility at the ANU and the Histopathology and Slide Scanning service at the University of Melbourne played a collaborative key role in this study.

“Phenomics Australia’s support has been instrumental in advancing our research. Their contribution has played a vital role in identifying a gene mutation crucial in psoriasis and psoriatic arthritis, paving the way for significant advancements in understanding and treating these conditions”. Dr Cardinez, from the ANU John Curtin School of Medical Research (JCSMR), said.

According to ANU researcher Dr Chelisa Cardinez, if two copies of this mutated gene (known as IKBKB) are present, patients with psoriasis may go on to develop psoriatic arthritis, leaving them with joint pain, stiffness and swelling. Thanks to the world-first discovery from ANU, scientists now know what causes the progression from a skin-only disease to a skin and joint disease.

It’s hoped the findings will lead to improved diagnosis and treatment for patients with psoriasis and psoriatic arthritis – conditions that patients say carry stigma in the community.

Dr Chelisa Cardinez inspects samples at the John Curtin School of Medical Research at the Australian National University (image: Jamie Kidston/ANU).

“Using a mouse model, we identified that this mutation led to an abnormal function in a group of immune cells known as regulatory T cells,” Dr Cardinez, from the ANU John Curtin School of Medical Research (JCSMR), said.

“These cells are normally considered gatekeepers of the immune system. However, we found that this mutation alters the function of these cells, causing them to contribute to inflammation and promote the onset of disease.”

CEO of Arthritis ACT Rebecca Davey lives with Psoriasis. Photo: Jamie Kidston/ANU

Rebecca Davey is one of at least 500,000 Australians who live with psoriasis. She also happens to have psoriatic arthritis and says the stiffness and pain she feels when she gets out of bed in the morning can be extreme.

“People don’t understand the debilitating effects these conditions can have on the individual and in fact a whole family when someone is in constant pain, has poor sleep from pain, and feels constantly fatigued,” Ms Davey said.

“My psoriatic arthritis drugs have largely reduced the larger outbreaks on my skin, but you do have to consider everything you put on your skin and the fabrics you wear. As a former nurse, even the constant hand washing that was required for work would cause my skin to flare up. It’s one of the reasons why I no longer work in the hospital system.”

Psoriasis and psoriatic arthritis are forms of autoimmune disease. These types of diseases occur when the immune system attacks healthy cells after wrongly perceiving them as a threat. According to Arthritis Australia, three out of every 10 Australians with psoriasis develop psoriatic arthritis.

Although there is no cure for psoriasis, there are treatments that can help manage the condition. In October 2023, the Pharmaceutical Benefits Scheme (PBS) listed a new, subsidised drug for Australians living with severe psoriasis.

Ms Davey, who is also CEO of Arthritis ACT, says it’s important to break down the stigma associated with these conditions. She says psoriasis is very misunderstood in the community.

“So many people are accused of having poor hygiene due to the plaques or even just minor skin lesions as they erupt. It’s not the individual’s fault that their skin is in the condition it’s in; psoriasis is a painful, debilitating condition,” she said.

“I had no idea what was causing my hands to flare up all the time. Our poor GPs often don’t recognise these conditions early.

“In regional and rural areas there is a drastic shortage of specialists both in dermatology and rheumatology to diagnose and treat these conditions, and people can wait over a year for an appointment if their symptoms are less dramatic.

“We must raise greater awareness of invisible disabilities such as those created by these conditions. A person might look ok from the outside, but in reality they are struggling on a daily basis.”

Dr Cardinez said: “Studies have shown that delays in psoriatic arthritis diagnosis is linked to worse clinical outcomes for patients. Therefore, earlier detection and treatment of these immune diseases is key to improving health outcomes.

“By developing a better understanding of the IKBKB gene and the role it plays in promoting the onset of these diseases, it could bring us a step closer to one day finding a cure, which would offer new hope for hundreds of thousands of Australians.”

The research is published in Nature Communications

The Australian Phenomics Facility specialises in the development, characterising and archiving of mouse models of human disease. They have an experienced genomics and bioinformatics capability focussed on the identification of single nucleotide polymorphisms and the phenotyping capability to make the biological associations with probable human disease traits. Their goals are to first derive the underlying genetic mechanisms and then look to extend this across the population and better understand cohort differences and responses.

The facility was established in 2005 and receives funding from the Australian Government’s NCRIS, Super Science and CRIS programmes through the Phenomics Australia and contributions from the Australian National University.

They have an open access policy and support academic and corporate research programmes in Australia and internationally.

Phenomics Australia Histopathology and Digital Slide Service helps researchers across Australia in analysing histology images and data on genetically modified or treated experimental animals. This service offers the latest in high quality capabilities including: Quality controlled mouse necropsies and tissue preparation, pathological analysis  and scoring of tissues, digital slide scanner capable of producing high quality images, high resolution light microscopy with electronic image capture, specialised staining.

Staff providing this service have extensive histology, diagnostic and electronic imaging experience. Consultant Medical and Veterinary Pathologists are available to provide expert advice.

The Histopathology and Digital Slide Service is based at the Department of Anatomy and Physiology at the University of Melbourne.

With an established track record and reputation for excellence, Phenomics Australia Genome Engineering team uses techniques such as CRISPR-mediated mutagenesis, classical gene targeting, and transgenesis to create optimal tools for your research delivering a comprehensive service in genome modification.  To meet the high demand for this platform, Phenomics Australia offers genome editing services through four nodes across Australia, operating at MonashANUWEHI, and SAHMRI.

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