Autoinflammatory diseases
Autoinflammatory diseases are conditions in which the innate immune system becomes inappropriately activated, causing recurrent or persistent inflammation without infection.
This uncontrolled inflammation can lead to fevers, pain, organ damage and long-term health complications, often beginning in childhood.
Together, these disorders place a significant burden on patients, families and the healthcare system. Many are chronic and can be severe or progressive, and while treatments can help control symptoms, options remain limited and cures are rare, making diagnosis and more targeted therapies critically important.
What are autoinflammatory diseases?
Causes
Types
Diagnosis
Treatments
Our autoinflammatory disease research
At Hudson Institute, our autoinflammatory disease research focuses on understanding why the innate immune system becomes abnormally overactive, triggering harmful inflammation and driving tissue damage.
Autoinflammatory conditions are often caused by genetic mutations that disrupt key immune pathways, leading to chronic illness. Our researchers are investigating the molecular mechanisms underlying these disorders to identify new therapeutic targets.
By understanding how changes in single genes can drive dysregulated inflammation, we can gain broader insights into inflammatory mechanisms that contribute to more complex disorders, including rheumatoid arthritis and inflammatory bowel disease.
Our goal is to develop precise, targeted treatments that better control inflammation, prevent long-term complications and significantly improve quality of life for patients and their families.
Research projects underway
Functional screens of inflammasome variants
The inflammasome is a complex of proteins within our cells that forms to trigger inflammation, and fight infection. However, gene variants in the inflammasome sensor can trigger it accidentally, causing autoinflammatory disease, often early in life.
A major challenge, is working out for any individual patient if they have a variant in one of these inflammasomes, is it the cause of their disease. To answer that question we are establishing functional screens for all known variants.
Characterising inflammasome variants and understanding the underlying pathways provides answers for the affected families and facilitates successful therapeutic intervention.
Mastering the master regulators
This project focuses on OTULIN, a protein acting as a natural brake on inflammation.
Total loss of OTULIN causes a rare, lifelong severe inflammatory disease in children (Davidson et al., JEM 2024). However, the real mystery lies in a partial OTULIN loss. These individuals appear healthy until a wound or infection triggers catastrophic tissue death, resulting in wounds that won’t heal.
Distinguishing this from standard infection is a major medical dilemma. While both require antibiotics, OTULIN patients also need anti-inflammatory drugs to promote wound healing. Doctors cannot safely add these without proof as blocking inflammation prevents the body from clearing bacteria.
Because there is currently no consensus on which genetic tweaks disrupt this protein, our project is mapping OTULIN variants to solve this puzzle and guide safe, precise, life-saving treatments.
New ways to target chronic inflammation
NLRP1 Inflammasome Dysregulation in Autoinflammatory and Skin Disease
Hudson Institute scientists cannot provide medical advice.
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