Senior Research Associate Dr Claire Deakin (pictured) and PhD student Kate Webb, both were awarded second and third place respectively for their oral presentations as part of the Young Investigator Meeting. Both Claire and Kate are based at the Arthritis Research UK Centre for Adolescent Rheumatology at Great Ormond Street Hospital (GOSH) and the UCL Great Ormond Street Institute for Child Health (ICH), UCL Division of Medicine and UCLH. The centre is supported by both Arthritis Research UK and GOSH Charity.
Dr Deakin’s research, which is also supported by the National Institute for Health Research (NIHR) GOSH Biomedical Research Centre, found that early onset of the rare immune disorder juvenile dermatomyositis (JDM) is linked to errors in two genes PDE1A and AGPAT3. JDM, is a serious condition where the immune system attacks the body causing skin rashes and severe muscle weakness. It affects three children in a million. The study, which analysed the entire genome from 312 JDM patients is the largest of its kind to date and is the first time that these two genes have been linked to JDM. This research could pave the way for new drug targets to treat JDM and helps shed light on why the conditions develop at different stages in children and young people.
Kate’s presentation covered her research into the underlying causes of juvenile onset systemic lupus erythematosus (jSLE), commonly known as lupus. In the study, Kate and colleagues analysed blood samples from 29 patients with lupus who were not experiencing a disease ‘flare’ and found that there were differences in the immune system between patients with high and low levels of interferons - molecules that cause inflammation. Lupus is a rare condition where the immune system is overactive and causes the joints and skin to become inflamed. These important findings will help researchers better understand different disease groups in lupus and may allow for more tailored individual treatments in the future. Kate is supported by Action Medical Research and the Arthritis Research UK Centre for Adolescent Rheumatology.