tab – about
Autoinflammatory diseases are an important group of rare conditions that exert a heavy burden of clinical care on affected individuals and their families.
Our goal is to advance the basic understanding of inflammatory pathways and the immune system as a whole, providing new insights into human health and disease. A better understanding of these pathways will enable development of new tests and therapies for rare autoinflammatory conditions, improving diagnosis and supporting better disease management for those affected.
While recent advances have led to better treatments, particularly for some specific conditions, there is still a significant gap in how we understand and manage these diseases, especially for rare forms and for children. The Centre of Research Excellence in Autoinflammatory Diseases (CRE-AID) is working to provide the fundamental insights required to drive the critical improvements needed for patients.
Our Vision
A partnership of researchers, clinicians and patient advocates, CRE-AID will pioneer collaborative fundamental research in autoinflammatory diseases – increasing diagnostic yield, enhancing therapeutic choice, and improving patient outcomes.
What are autoinflammatory diseases?
Autoinflammatory diseases, also known as periodic fever syndromes, are a group of rare conditions that are characterised by episodes of symptoms such as fever and inflammation.
These symptoms are the result of an overactive innate immune system, triggered due to changes in genes within the molecular pathways that control our front-line immune response.
Monogenic autoinflammatory diseases are caused a change in a single gene. These genetic changes can be passed down from parents to children, so some families may have multiple members with the same condition.
Examples of monogenic autoinflammatory diseases include:
- Familial Mediterranean Fever (FMF)
- Cryopyrin-associated periodic syndrome (CAPS)
- TNF Receptor-associated periodic syndrome (TRAPS)
- Hyper IgD Syndrome (HIDS)
Other autoinflammatory disorders may be caused by multiple genetic changes or may be influenced by environmental factors.
Effective treatment of autoinflammatory diseases often relies on a genetic diagnosis, to guide the selection of therapeutics that target the specific immune pathway affected in an individual.
With recent advances in genetics, scientists have been able to identify the changes in some of the genes and molecular pathways responsible for many autoinflammatory diseases. This research has enabled the development of genetic tests to help with diagnosis and therapeutic management. However, only some of the genes and immune pathways associated with autoinflammatory diseases have been identified, and the functional impact of most gene variants in known pathways are untested – so for a significant number of patients, the underlying genetic cause of their condition is unknown.
Further, while many excellent therapies for autoinflammatory diseases are established and others are emerging, their application remains limited without better screening tools. Improved screening tools would allow for therapeutic targeting, to ensure the best treatment is available for each patient. CRE-AID aims to fill these knowledge gaps, so we can improve options and outcomes for patients.