The past 25 years in paediatric rheumatology: insights from monogenic diseases.
Seher SenerIvona AksentijevichPublished in: Nature reviews. Rheumatology (2024)
The past 25 years have seen major novel developments in the field of paediatric rheumatology. The concept of autoinflammation was introduced to this field, and medicine more broadly, with studies of familial Mediterranean fever, the most common autoinflammatory disease globally. New data on the positive evolutionary selection of familial Mediterranean fever-associated genetic variants might be pertinent to mild gain-of-function variants reported in other disease-associated genes. Genetic studies have unveiled the complexity of human heritability to inflammation and flourishing data from rare monogenic disorders have contributed to a better understanding of general disease mechanisms in paediatric rheumatic conditions. Beyond genomics, the application of other 'omics' technologies, including transcriptomics, proteomics and metabolomics, has generated an enormous dataset that can be applied to the development of new therapies and in the practice of precision medicine. Novel biomarkers for monitoring disease activity and progression have also emerged. A surge in the development of targeted biologic therapies has led to durable remission and improved prognosis for many diseases that in the past caused major complications. Last but not least, the COVID-19 pandemic has affected paediatric rheumatology practice and has sparked new investigations into the link between viral infections and unregulated inflammatory responses in children.
Keyphrases
- disease activity
- rheumatoid arthritis
- juvenile idiopathic arthritis
- intensive care unit
- emergency department
- systemic lupus erythematosus
- single cell
- genome wide
- healthcare
- primary care
- rheumatoid arthritis patients
- mass spectrometry
- electronic health record
- copy number
- endothelial cells
- young adults
- early onset
- oxidative stress
- risk factors
- sars cov
- machine learning
- data analysis
- transcription factor
- artificial intelligence
- label free
- induced pluripotent stem cells
- genome wide analysis