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Projects. Life and Matter Sciences

Tracing tissue damage and the adaptive response in rare hereditary haemochromatosis for the identification of specific therapeutic targets

Lead Researcher:
José Manuel Bautista Santa Cruz

Research Centre:
Instituto de Investigación Hospital 12 de Octubre. Madrid.


José Manuel Bautista Santa CruzHereditary haemochromatosis (HH) is characterised by iron overload in a wide range of organs. Different mutations in several independent locations of the human genome give rise to different types of recessive autosomic HH (HH1, HH2 and HH3) or a dominant form (HH4). Rare haemochromatoses are mainly of the HH2, HH3 and HH4 types. A very limited therapeutic arsenal exists against the different presentations of HH and it is basically aimed at eliminating iron from the organism by means of regular phlebotomies or iron chelation. Nevertheless, there are no specific therapies to protect against and/or attenuate the adverse effects of iron overload in different organs, in juvenile forms as well as later presentation in adults. This is due to limited knowledge regarding iron-overload induced cellular damage and its specific phenotypical alteration in the organs and tissues affected by HH. Within this context the project has three aims. Firstly: massive tracing of global alterations in the proteome and transcriptomein tissues affected by iron overload. Second: typification of different immune responses in HH. Third: exploration of adaptation / epigenetic response mechanisms to iron deposits. These aims will be met by using preclinical models of mice which are carriers of polymorphisms that cause HH, and results will be validated by analysis using samples of patients with rare HH that, overall, will make it possible to discover specific biomarkers of disease progress and, potentially, to design specific therapies against tissue damage in HH.

José Manuel Bautista Santa Cruz

Born in Talavera de la Reina in 1960. Degree in Veterinary Medicine (1982) and Doctor in Biochemistry (1987), Universidad Complutense de Madrid. Postdoctoral studies in the Haematology Department of the Royal Postgraduate Medical School, London (1988-1991), where he specialised in hereditary erythroenzymopathies and G6PD deficit.

Associate Professor of the University of Extremadura (1984-1988), Professor (1991-2007) and Head of Department (2007-present) of the Universidad Complutense, Madrid. Director of Translational II Haematology of the Instituto de Investigación del Hospital 12 de Octubre (2008-present) and the Department of Biochemistry and Molecular Biology IV of the Universidad Complutense, Madrid (2008-present).

Visiting Professor in Hammersmith Hospital of Imperial College, London (April 1995-April 1996), in the University of Mauritius (1997: 1 month), in Naples CNR (2000: 3 months), in the University for Developmental Studies de Tamale-Ghana (2005: 1 month) and in the Université Cheikh Anta Diop, Dakar-Senegal (2012-1 month).

Researcher into the molecular mechanisms involved in G6PD deficits associated with malaria-tolerant phenotypes and other hereditary erithroenzymopathies, with emphasis on pathology, pharmacogenetics and gene therapy. He was the main researcher in 30 competitive research projects, including 5 for the European Commission (2 as Coordinator), 1 for UNESCO and 13 in the Nacional Plan. He has published more than 100 indexed scientific articles, has registered 2 patents and coordinated 3 projects for cooperation and development in Ghana.

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