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Content archived on 2024-06-18

Nuclease Immune Mediated Brain and Lupus-like conditions (NIMBL): natural history, pathophysiology, diagnostic and therapeutic modalities with application to other disorders of autoimmunity

Objective

Nuclease Immune Mediated Brain and Lupus-like (NIMBL) conditions, comprising Aicardi-Goutieres Syndrome, Retinal Vasculopathy with Cerebral Leukodystrophy and some cases of Systemic Lupus Erythematosus, are devastating genetic disorders resulting in greatly reduced quality of life, high mortality especially in children, and significant risks of recurrence within affected families. NIMBL conditions are rare, but under diagnosed. No effective treatments or cures exist at present. To enable optimum patient care in Europe and worldwide, a better understanding of the natural course of these disorders and their underlying pathological basis is essential. In the NIMBL project, European and U.S. clinical and basic scientists at the forefront of NIMBL-related research have united to develop a translational approach to these problems. A registry of patients will reveal the natural history of the NIMBL diseases, and the efficacy of current treatments. Investigation of patients together with the use of existing and novel cellular and animal models will precisely define their pathogenesis and identify potential drug targets. These same platforms will then be used to test existing and new drug treatments, thus providing unique opportunities to European companies. The NIMBL project will build on very recent discoveries of the cell-intrinsic initiation of autoimmunity that we have described, and which have major implications for our understanding of the discrimination of self from non-self. This new biological paradigm involves cytosolic sensors that detect accumulated, endogenous nucleic acids, and induce the body to mount an immune response against its own cells. Thus, the investigation of NIMBL diseases will not only improve the health and well-being of NIMBL patients and their families, it will also lead to better treatments of much more common autoimmune disorders including lupus.

Fields of science (EuroSciVoc)

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Programme(s)

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Topic(s)

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Call for proposal

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FP7-HEALTH-2009-single-stage
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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.

CP-FP - Small or medium-scale focused research project

Coordinator

THE UNIVERSITY OF MANCHESTER
EU contribution
€ 1 379 436,00
Address
OXFORD ROAD
M13 9PL Manchester
United Kingdom

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Region
North West (England) Greater Manchester Manchester
Activity type
Higher or Secondary Education Establishments
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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.

No data

Participants (8)

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