Skip to main content
Go to the home page of the European Commission (opens in new window)
English English
CORDIS - EU research results
CORDIS

Multi-omics research applied to Human ADA2 deficiency and beyond

Project description

Insight into the pathophysiology of adenosine deaminase 2 deficiency

Adenosine deaminase 2 (ADA2) deficiency is an inherited disorder associated with abnormal inflammation throughout the body, including blood vessels (vasculitis), immunodeficiency, and cytopenia. However, many aspects of the pathophysiology of ADA2 deficiency remain unresolved. The scope of the EU-funded MORE2ADA2 project is to study the function of ADA2 and understand how it leads to disease characteristics and phenotype. Previous work by project researchers has shown a role of ADA2 in antiviral immune response and endothelial function. Moreover, scientists will screen novel drugs as alternative strategies to anti-TNF blockade and hematopoietic stem cell transplantation, which are the current first-line treatments.

Objective

Human adenosine type 2 (ADA2) deficiency is a rare but devastating condition resulting in a complex phenotype of vasculitis (ranging from cutaneous to intracerebral vasculitis with lacunar infarcts), immunodeficiency (recurrent bacterial or viral infections), bone marrow anomalies (cytopenia, aplasia), cancer (lymphoma, leukemia). Mortality is 10%, often in childhood. The mainstay of treatment consists of anti-TNF blockade for vasculitis. Cytopenia and immunodeficiency respond poorly. Hematopoietic stem cell transplantation is curative in most cases. Although the condition was described in 2014, its pathophysiology is unsolved. From previous work in my laboratory, I have gained insight that ADA2 is likely to play a significant role in antiviral host defense and endothelial function. I thus hypothesize that ADA2 deficiency is an underdiagnosed condition and that complete or partial ADA2 deficiency plays a role in several other common medical conditions. With this research proposal, I aim (1) to unravel the pathophysiology of ADA2 deficiency, to (2) study the significance of ADA2 deficiency in phenocopies of the disease (3) to study the function of ADA2 in vitro (4) to develop new treatment strategies for ADA2 deficiency and its phenocopies. To achieve these aims I will study the prevalence of ADA2 deficiency in cohorts of patients presenting with one or more of the main disease characteristics (e.g. juvenile stroke, aplasia, childhood lymphoma...) by genetic and functional approaches. The genotype, immunophenotype and clinical characteristics of these patients will be studied using the newest technologies. In cell lines and tissue samples of ADA2 deficient patients, we will study the function of ADA2. Finally, we will screen known and novel drugs for their potential use in ADA2 deficiency and phenocopies, even beyond, in cardiovascular disease, cancer, anti-viral host defense.

Fields of science (EuroSciVoc)

CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
This project's classification has been validated by the project's team.

Keywords

Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)

Programme(s)

Multi-annual funding programmes that define the EU’s priorities for research and innovation.

Topic(s)

Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.

Funding Scheme

Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.

ERC-STG - Starting Grant

See all projects funded under this funding scheme

Call for proposal

Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.

(opens in new window) ERC-2020-STG

See all projects funded under this call

Host institution

KATHOLIEKE UNIVERSITEIT LEUVEN
Net EU contribution

Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.

€ 1 958 505,00
Address
OUDE MARKT 13
3000 LEUVEN
Belgium

See on map

Region
Vlaams Gewest Prov. Vlaams-Brabant Arr. Leuven
Activity type
Higher or Secondary Education Establishments
Links
Total cost

The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.

€ 1 958 505,00

Beneficiaries (1)

My booklet 0 0