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The past 25 years in paediatric rheumatology: insights from monogenic diseases

Seza Ozen¹, Ivona Aksentijevich²

¹Department of Paediatric Rheumatology, Hacettepe University, Ankara, Turkey. sezaozen@gmail.com.

Nature Reviews. Rheumatology

|August 7, 2024

Abstract:

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.

Insights

Paediatric rheumatology has advanced significantly with insights into autoinflammation and genetics. New therapies and biomarkers offer improved outcomes for childhood rheumatic diseases, with ongoing research into COVID-19 impacts.

Area of Science:

Paediatric rheumatology
Autoinflammation
Genetics and omics technologies

Background:

The last 25 years have seen transformative progress in paediatric rheumatology.
The introduction of autoinflammation concepts, exemplified by familial Mediterranean fever, has reshaped understanding.
Genetic and 'omics' research illuminates inflammation heritability and disease mechanisms.

Purpose of the Study:

To review key advancements in paediatric rheumatology over the past 25 years.
To highlight the impact of genetic discoveries and 'omics' technologies on understanding and treating childhood rheumatic diseases.
To discuss the emergence of targeted therapies and the influence of the COVID-19 pandemic.

Main Methods:

Review of major developments in paediatric rheumatology.
Analysis of genetic studies, including familial Mediterranean fever and monogenic disorders.
Integration of 'omics' data (genomics, transcriptomics, proteomics, metabolomics).

Main Results:

Introduction of autoinflammation as a key concept.
Unveiling the complexity of inflammation heritability through genetic studies.
Development of novel biomarkers and targeted biologic therapies leading to improved remission and prognosis.
Emergence of new research into viral infections and inflammation in children post-COVID-19.

Conclusions:

Paediatric rheumatology has evolved with a deeper understanding of autoinflammatory and genetic underpinnings.
Precision medicine approaches, driven by 'omics' data and targeted therapies, are improving patient outcomes.
Future research directions include understanding viral triggers and refining therapeutic strategies.

Read full analysis

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