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Genetic control of the pathogenesis of diseases based on iron accumulation

Objective

Two main types of diseases based on iron accumulation will be studied:

1) Chronic systemic iron over-load diseases.
They comprise:
i)HFE Haemochromatosis, which is one of the most frequent hereditary recessive diseases in Europe. It affects female/male subjects both in their quality of life and/or their vital prognosis. It should be emphasized that only a limited percentage (especially for females) of the individuals carrying the genetic hallmark predisposing to the disease (homozygosity for the C282Y mutation) will develop an overt disease, raising the issue of the involvement, beside acquired factors, of genetic factors accounting for this important global and gender phenotypic variability.
ii) Non HFE Hereditary Iron Overload, such as Juvenile Haemochromatosis, Transferrin Receptor2 Haemochromatosis, or the Ferroportin Disease.

2) The Anemia of Chronic Disease, which is the second most common form of anemia worldwide, source of important disability and related to local macrophagic iron accumulation. For both types of diseases, recent data have shed light on the key pathogenic role of hepcidin dysregulation.

The aims of our project are to dissect the mechanisms, both at the genetic and molecular levels, accounting for the development of these body iron misdistributions and for their phenotypic variability. The fact that these two types of situations can be, on a pathophysiological viewpoint, considered as "mirror" conditions constitute a major advantage for our integrated methodological approach which will rest upon animal and cellular models using innovative methodologies as well as upon the study of groups of highly selected patients. The expected improvement in our knowledge of the genetic control of the pathogenesis of these specific diseases should not only provide novel diagnostic markers and new potential therapeutic targets, but also indirectly benefit to the understanding and management of other types of diseases based on disorders of iron metabolism.

Call for proposal

FP6-2005-LIFESCIHEALTH-6
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Funding Scheme

STREP - Specific Targeted Research Project

Coordinator

UNIVERSITY OF RENNES1
Address
2 Rue Du Thabor
Rennes
France

Participants (10)

KINGS COLLEGE LONDON
United Kingdom
Address
Strand
London
THE HEBREW UNIVERSITY OF JERUSALEM
Israel
Address
The Authority For Research And Development, Edmond J. Safra Campus, Givat Ram
Jerusalem
UNIVERSITA' VITA-SALUTE SAN RAFFAELE'
Italy
Address
Via Olgettina 58
Milan
EUROPEAN MOLECULAR BIOLOGY LABORATORY
Germany
Address
Meyerhofstr. 1
Heidelberg
MEDICAL UNIVERSITY OF INNSBRUCK
Austria
Address
Christoph Propst Place 1
Innsbruck
PARTNERCHIP
France
Address
Bat G2 -2 Rue Gaston Cremieux
Evry
INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MEDICALE
France
Address
101 Rue De Tolbiac
Paris
UNIVERSITÀ DEGLI STUDI DI BRESCIA
Italy
Address
Piazza Del Mercato 15
Brescia
UNIVERSITÀ DEGLI STUDI DI MODENA E REGGIO EMILIA
Italy
Address
Via Università N.4
Modena
UNIVERSITÄTSKLINIKUM HEIDELBERG
Germany
Address
Im Neuenheimer Feld 672
Heidelberg