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Research

Your research could change everything. We’re here to help you make that difference.

What we know

Conventional treatments

are not effective in managing monogenic autoimmune diseases.

However, therapies targeted at the relevant molecular pathways are becoming available; ultimately, gene therapy holds the promise of a cure. 

Rare genetic disorders

are often neglected by research organisations and fail to get the resources they need to develop new treatments. 

Yet, with new gene therapies performed soon after early genetic diagnosis, children could be spared the ravages of these genetic disorders.

Potential

Rare disease research has the potential to benefit more people than those affected by these conditions.

It will also shed light on a range of other more common conditions, such as severe COVID-19 infection, rheumatoid arthritis, systemic lupus erythematosus, and other autoimmune conditions.

Latest Research

Research piece 3 mins read

An increase in gut microbe chemicals found in inflammatory diseases including SLE and in SAVI mice

This study explores how changes in gut bacteria (microbial dysbiosis) can lead
Research piece 3 mins read

A role for signalling via the molecule tumour necrosis factor in SAVI

Plain Language Summary This study explores how a protein called Tumour necrosis
Research piece 3 mins read

Genetic variants can protect against COPA syndrome and SAVI

This study investigates a protein called STING (Stimulator of Interferon Genes), which
Research piece 3 mins read

A review of inflammation of the blood vessels caused by genetic conditions, including SAVI

Plain Language Summary Monogenic systemic vasculitis refers to rare diseases caused by
Research piece 2 mins read

Improved lung function supported by CT scans in a 5-year-old with SAVI treated with baricitinib

A rare childhood disease called STING-associated vasculopathy with onset in infancy (SAVI)
Research piece 3 mins read

STING induces ZBP1-mediated necroptosis independently of TNFR1 and FADD (Kelepouras et al., 2025)

This study explores how a specific pathway in the immune system, known
Research piece 3 mins read

Mouse model identifies mechanism for why the immune system may be compromised in SAVI

This study examined how a specific genetic mutation in the gene STING
Research piece 2 mins read

The development of two new drugs that inhibit STING, the key molecule that is overactive in SAVI

Scientists found two new drug candidates, UM-242 and UM-259, that can turn
Research piece 3 mins read

A report of the outcome of one young boy’s drug treatment for SAVI over 2 years and a summary of similar treatments in scientific and medical journals.

This study examines a rare childhood disease called SAVI, caused by mutations
Research piece 3 mins read

STING Polymer Structure Reveals Mechanisms for Activation, Hyperactivation, and Inhibition.

This study provides key evidence for how the protein Stimulator of Interferon
Research piece 3 mins read

Targeting Stimulator of Interferon Genes (STING) oligomerization with small-molecule inhibitors

Using a small-molecule drug to interfere with the joining together of Stimulator
Research piece 4 mins read

Activated STING in a Vascular and Pulmonary Syndrome

The first description of STING-associated vasculopathy with onset in infancy (SAVI) as
Research piece 4 mins read

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

A medicine that inhibits the enzyme Janus kinase (JAK) benefits children and
Research piece 4 mins read

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature

Lay Title: A report of adult-onset STING-associated vasculopathy and a literature review
Research piece 4 mins read

First successful allogeneic hematopoietic stem cell transplantation in STING-associated vasculopathy of infancy—A case report

Lay Title: Successful treatment of STING-associated vasculopathy (SAVI) with bone marrow stem
Research piece 5 mins read

Insights from a Novel Monogenic Autoinflammatory Disease: Overview of a Multicentric European Cohort of 38 Patients with COPA Syndrome

Title: : Clinical evaluation of COPA syndrome in a European group Date
Research piece 2 mins read

Delivery of genetic instructions to the lungs will help in the development of new treatments for serious lung diseases e.g. SAVI

Scientists created a new type of small particle that can safely deliver


Interested in research opportunities?

Whether you’re a rare genetic disease researcher seeking your next project or belong to a forward-thinking research institution, we’d love to hear from you.

Learn more about our current initiatives, suggest a new research project, or let us know how we can support your research efforts.

Discover current opportunities

Our grants process

Our Scientific Advisory Panel considers all funding requests and priorities

Apply for funding
1 Apply for funding
Visit our research opportunities page and complete your application. You can contribute to one of our projects or propose your own idea.
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2 Assess applications
Our Scientific Advisory Panel considers all funding requests and prioritises them in terms of originality, relevance, scientific soundness of design and methodology, and feasibility.
2 of 4
3 Recommendations
The Scientific Advisory Panel submits its recommendations to our Board of Trustees.
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4 Applications
We grant funding to successful applicants after further discussions and agreements on outcomes, delivery, and reporting guidelines.
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Where we need you

Every donation helps us create a future where rare genetic disorders are understood and fully treatable. 

Every gift of time supports us along our pathway to a cure.

Get Involved
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