PAST COLLABORATORS

This study aimed to understand the long-term outcomes of individuals who experienced myositis in childhood as they transitioned into young adulthood.

There were no sufficiently large research studies able to address many of the questions commonly raised by patients and parents regarding long-term outcomes in myositis. These included the impact of childhood myositis on quality of life, education, and employment in young adulthood, as well as whether the disease itself or its treatments contributed to long-term organ damage.

To address these gaps, information collected through the Juvenile Dermatomyositis Cohort Biomarker Study and Repository was linked with outcome-focused questionnaires. These questionnaires were designed for individuals who had myositis in childhood and were aged 16 years or over at the time of data collection.

The resulting data were used to explore how disease features at diagnosis and during treatment were associated with long-term outcomes. This work contributed to improving understanding of the long-term consequences of childhood myositis and helped inform more evidence-based responses to questions raised by patients and families.

You can read the full article here.

My research involved multi-level genetic data (from DNA to gene expression) better to understand JDM’s general aetiology and possible medication. We investigated the difference of inherited genetic variations and gene expression between the immune cells of JDM patients and healthy individuals. These differences gave clues for the JDM disease mechanism and a possible target for medications. 

Additionally, this work included the management and curation of a large cohort of RNA-sequencing (gene expression) data from various autoimmune diseases under the Rheumatology Share RNA-Sequencing (RSS) Project. This project has a similar approach to my research in JDM, with extensions to investigate the shared genetic risk factors between all rheumatoid-related diseases.

As part of the Juvenile Dermatomyositis Cohort and Biomarker Study, we studied histopathological features of muscle biopsies taken from JDM patients. We developed a score tool for assessing the severity of muscle disease in JDM biopsies and we investigated how the severity of muscle disease differs according to the autoantibodies detected in patients’ blood.

Dr. Claire Deakin, a post-doctoral fellow supported by The Myositis Association, has analysed muscle biopsy and autoantibodies as prognostic factors for long-term outcomes in JDM. She has found that increased severity of muscle disease is linked to an increased likelihood of remaining on treatment over time. Interestingly, the relationship between muscle disease and treatment length is also affected by the type of autoantibody detected in patients’ blood. For example, although patients with certain autoantibodies may be more likely to have severe muscle disease at onset, in spite of this they may also be more likely to come off treatment.

Such knowledge may be useful for identifying which patients may respond to standard treatment or may require more intensive treatment. It may also be useful for estimating the likely duration of treatment.