We are proud to share news of a groundbreaking discovery from our colleagues at Great Ormond Street Hospital and UCL, recently featured on the GOSH website, as well as on the UCL website. The study provides crucial new insights into how mitochondrial dysfunction contributes to JDM. These findings mark an important step towards more targeted and effective treatments for affected children and their families.
Among the researchers leading this effort was Aris Syntakas, a UCL PhD Student and member of the JDCBS, and Dr Meredyth Wilkinson, Deputy Lead Basic Science of the JDCBS. Their work contributed to uncovering new biological pathways that may help guide the development of future therapies.
Mr Aris Syntakas, says:
“Being part of this study has been incredibly rewarding. Using cutting-edge spatial transcriptomics, we were able to look deeper into JDM muscle tissue than ever before. It was fascinating to see that mitochondrial dysfunction is a core feature of the disease, present even in muscle with minimal weakness, and that it appears to operate in parallel to the well-known interferon response. This suggests that future therapies targeting mitochondrial health could be a valuable new approach, especially for patients who don’t fully respond to current anti-inflammatory treatments.
I’m proud to have contributed to this work and am excited by the new therapeutic pathways it opens up for exploration.“
Dr Meredyth Wilkinson, says:
” We are extremely privileged to work on the Juvenile Dermatomyositis Cohort and Biobank study, one of the largest databases of both clinical and biological JDM samples in the world, and very grateful to all the patients and families who donate samples to research like ours.”
At JDCBS, we are excited to see how these insights will shape the future of care for children with JDM — and we are grateful to the researchers and families whose dedication makes breakthroughs like this possible.
The news story has also been picked up by The Observer, you can find the full article here.
