Decoding the Genetics of Autoimmune Disease

The Challenge

Ten percent of Australians suffer from one or more autoimmune diseases that cause the immune system to mistakenly attack the body’s own cells. Common conditions include multiple sclerosis, rheumatoid arthritis, lupus, coeliac disease, and type 1 diabetes. While there are more than 80 autoimmune diseases, they all involve inflammation and tissue damage which lead to painful and debilitating symptoms.

Project Overview

At WEHI, their ultimate goal is ambitious: to prevent autoimmune diseases before they start. To do this, they first need to understand who is most at risk, and why. The key lies in decoding the genetic factors behind these diseases.

Rather than focusing on a single condition, they are taking a “disease agnostic” approach. By studying the genetics of 30 common autoimmune diseases, they aim to identify new genes involved in autoimmune disease. This could help reveal new treatments for existing conditions, and eventually guide preventative strategies.

Thanks to support from Munro Partners and Hearts & Minds Investments, the team is developing cutting-edge experimental models and using next-generation DNA sequencing. This work is led by early career researchers Dr Viacheslav Kriachkov (molecular biologist), research assistant James Lancaster (bioinformatician), and PhD student Jeralyn Ching Wen Hui (molecular biologist).

Project Outcomes

• Identify genes involved in autoimmune disease development or symptoms, including previously unknown genes.
• Prioritise genes for future study and potential therapeutic or diagnostic applications.
• Build tools and methods that can be applied to other complex diseases, like cardiovascular or neurodevelopmental conditions.

Project highlights

• Promising gene targets: The team has already identified dozens of promising gene targets from their experiments, which are now being rigorously tested to assess their potential for diagnosis and treatment. These findings are being prepared for publication in a peer-reviewed journal.
• Lab toolkit advancement: The laboratory “toolkit” developed by the team has exceeded expectations, providing methods that can soon be applied to other complex diseases.
• Collaboration potential: The expertise gained is fostering collaborations with research groups working in autoimmune diseases, as well as cardiovascular and neurodevelopmental diseases.

Measuring Impact

Hearts & Minds measures its impact across six core categories as developed by the Association of Australian Medical Research Institutes. Key highlights include:

Advancing Knowledge

• Collaborations: Partnerships with institutes in Australia (WEHI, Garvan) and globally.
• Knowledge sharing: Presenting ideas at conferences, seminars, and events worldwide.
• Consumer & community awareness: Engaging patient groups for autoimmune diseases, including multiple sclerosis and Crohn’s disease.

Research Capacity Building

• Supporting diverse talent: The team values equity and diversity, with a mix of genders and active involvement in equality programs. Four early-career researchers are part of the team.
• External committees: Hamish King is a member of the Editorial Board at Genome Biology and expert reviews internationally.

Health Impacts

• Improved patient outcomes: Developing new genetic insights that may lead to better patient care.

Social Impacts

• Exploring gender patterns: The team is investigating why women, who make up 75% of autoimmune disease patients, are disproportionately affected.

Informing Decisions:

• Peer-review contributions: Participating in grant reviews in Australia, the UK, and Germany.
• Policy influence: Trialling expanded screening that may inform future healthcare policies.

This project is breaking new ground in understanding the genetic causes of autoimmune diseases. By identifying key genes and developing innovative laboratory tools, the team at WEHI is opening the door to better treatments, preventative strategies, and broader applications for other complex diseases. Their work not only advances scientific knowledge but also strengthens patient care, fosters collaboration, and supports the next generation of researchers.

Funding support from Hearts and Minds Investments, as nominated by Core Fund Manager, Munro Partners.

This content was last updated in August 2025, for further information visit WEHI.