At our July Virtual Education Session, Associate Professor Amanda Saracino, dermatologist and post-doctoral research fellow at the University of Melbourne, shared exciting updates on how skin-focused research is deepening our understanding of scleroderma and shaping the future of diagnosis, monitoring and treatment.
The session looked closely at the important role the skin plays in understanding scleroderma. Associate Professor Saracino introduced Australia’s new Skin Manifestations of Autoimmune Rheumatic Diseases (SMARD) Registry, a dedicated biobank, and innovative research using artificial intelligence (AI) and advanced genetic technologies. Participants heard how specialised multidisciplinary clinics, translational research and patient participation are working together to improve care and open the door to more personalised treatment.
Why Skin Research Matters
Although scleroderma affects many organs throughout the body, the skin is often where the disease first becomes visible. Changes in skin thickness, texture, colour, and blood vessels can provide important clues about disease activity and progression.
Associate Professor Saracino explained that skin symptoms can have a significant impact on quality of life, affecting mobility, comfort, confidence, and everyday activities. Understanding these changes more thoroughly not only helps clinicians provide better care but also allows researchers to identify patterns that may lead to earlier diagnosis and more targeted treatments.
To support this work, St Vincent’s Hospital has established a collaborative dermatology and rheumatology clinic, bringing specialists together to provide comprehensive care while advancing research into autoimmune connective tissue diseases, including systemic sclerosis and morphoea.
One example shared during the session demonstrated the value of this multidisciplinary approach. A patient with progressive morphoea had skin changes that did not respond to standard treatment. Because the clinical team recognised that the skin appearance was unusual, they investigated further and identified an underlying medical condition that was driving the disease. Once that condition was treated, the patient’s skin symptoms improved significantly. The case highlighted the importance of specialist assessment and looking beyond the obvious when symptoms do not follow the expected pattern.
Advancing Australian Scleroderma Research
One of the major highlights was the launch of the Skin Manifestations of Autoimmune Rheumatic Diseases (SMARD) Registry.
While the Australian Scleroderma Interest Group (ASIG) Cohort has already contributed significantly to systemic sclerosis research, the SMARD Registry focuses specifically on skin involvement. It collects detailed information about skin changes, allowing researchers to study features such as skin thickness, pigmentation, and blood vessel abnormalities in much greater depth.
Associate Professor Saracino also discussed research into telangiectasia – the small red blood vessels commonly seen in people living with scleroderma. Previous studies have shown that these skin changes are associated with other blood vessel-related complications, but researchers now hope to learn much more by recording their number, size, location, and how they change over time. This richer information may help determine whether different patterns of telangiectasia can provide clues about disease progression or treatment response.
The registry is still in its early stages, but it represents an important step towards more personalised care by helping researchers better understand why scleroderma affects people differently.
Building a Biobank for Future Discoveries
Alongside the SMARD Registry, Associate Professor Saracino introduced another exciting milestone: the establishment of a dedicated skin biobank at the St Vincent’s Institute of Medical Research.
A biobank securely stores donated skin and blood samples for use in current and future research. Participants attending the specialist clinic can choose to donate a skin biopsy, an additional tube of blood during routine testing, or both.
These samples give researchers valuable insight into the biological processes involved in scleroderma, supporting a wide range of projects aimed at improving diagnosis, identifying biomarkers and developing new treatments. By combining biological samples with the detailed clinical information collected through the SMARD Registry, researchers are building a resource that will benefit Australian and international scleroderma research for years to come.
New Technologies Driving the Future of Care
Associate Professor Saracino highlighted several innovative research projects that are helping researchers better understand scleroderma at both the clinical and molecular level.
One exciting collaboration is with the internationally recognised Yale Scleroderma Program, where researchers are using artificial intelligence (AI) to analyse images of skin biopsy samples. By combining these images with clinical skin scores, AI models are being trained to measure skin thickness more objectively and identify subtle changes that may help clinicians monitor disease progression and treatment response more accurately.
Another flagship project is using spatial transcriptomics, an advanced technology that maps which genes are active within specific areas of the skin while preserving their exact location. This allows researchers to study how immune cells, connective tissue, and blood vessels interact during the disease process, providing valuable insights into the biological pathways that drive fibrosis and inflammation.
Amanda also discussed the development of the Morphoea Activity and Damage Measure (MADM), an international assessment tool designed to improve how clinicians measure disease activity and permanent skin damage in morphoea. Standardised tools such as MADM are essential for improving consistency between healthcare professionals and supporting future clinical trials.
Together, these projects represent an important step towards precision medicine, where treatments can be tailored to an individual’s disease rather than using a one-size-fits-all approach.
Why Research Participation Matters
Every research breakthrough begins with people who are willing to participate.
Whether joining the SMARD Registry, donating a skin or blood sample, or taking part in research studies, participants make an invaluable contribution to improving our understanding of scleroderma. Although research takes time, each contribution helps researchers answer important questions about disease progression, identify new treatment targets, and develop better ways to care for people living with scleroderma.
Frequently Asked Questions
1. What is the SMARD Registry?
The SMARD Registry collects detailed information about skin involvement in autoimmune rheumatic diseases, helping researchers better understand how skin symptoms develop and change over time.
2. Why is a biobank important?
A biobank stores donated skin and blood samples that allow researchers to investigate the biological processes behind scleroderma and support future research into diagnosis and treatment.
3. How is artificial intelligence being used?
Researchers are developing AI tools to analyse skin biopsy images, helping measure skin thickness more consistently and monitor disease progression more accurately.
4. What is spatial transcriptomics?
Spatial transcriptomics is an advanced technology that maps gene activity within different areas of the skin, helping researchers understand the biological pathways involved in scleroderma.
5. Why should people consider participating in research?
Research participation helps build knowledge that may lead to earlier diagnosis, improved treatments, and better outcomes for future generations of people living with scleroderma.
TL;DR
Research is changing what we know about scleroderma and opening up new possibilities for earlier diagnosis, better monitoring and more personalised care. During our July Virtual Education Session, Associate Professor Amanda Saracino shared the latest developments in Australian skin-focused scleroderma research, including the launch of the SMARD Registry, a dedicated skin biobank, and projects using artificial intelligence, spatial transcriptomics and international collaboration with the Yale Scleroderma Program. These initiatives aim to improve how clinicians assess skin involvement, understand disease progression and develop treatment approaches tailored to each individual.
Conclusion
Research continues to transform our understanding of scleroderma, and the work being undertaken through the ASIG Skin Fellowship is placing Australia at the forefront of skin-focused scleroderma research.
Through initiatives such as the SMARD Registry, the dedicated St Vincent’s Institute Biobank, international collaborations with the Yale Scleroderma Program, advanced technologies including artificial intelligence and spatial transcriptomics, and the development of new clinical assessment tools like the Morphoea Activity and Damage Measure (C), researchers are building a more detailed understanding of how scleroderma affects the skin and the body.
While many of these projects are still in the research phase, each discovery represents another step towards earlier diagnosis, improved disease monitoring, more personalised treatment approaches, and ultimately, better outcomes for people living with scleroderma.
For those living with Scleroderma, staying updated and informed can make a world of difference. Connecting with others can also be hugely beneficial. Find out more about support in your area by clicking here.
If you’d like to gain firsthand knowledge, our National Education Sessions and Virtual Education Sessions are available to you at no charge. Our Virtual Education Sessions are held every month through Google Meet. You can sign up for these free Virtual Education Sessions by clicking here.
These sessions provide an opportunity to engage with medical professionals and seasoned legal experts who will address common inquiries about Scleroderma and related topics.