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Projects. Life and Earth Sciences

Rare diseases

17th National Programme

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.


Cellular response to blocked breakages of DNA and its role in the pathogenesis of Ataxia-Telangiectasia
Lead Researcher: Felipe Cortés Ledesma
Research Centre: Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER). Sevilla.


Characterisation of MORC2, a new gene involved in peripheral neuropathies
Lead Researcher: Carmen Espinós Armero
Research Centre: Centro de Investigación Príncipe Felipe. Valencia.


Molecular therapy for Laminopathies
Lead Researcher: Ana María González García
Research Centre: Centro Nacional de Biotecnología (CNB). CSIC. Madrid.


New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome
Lead Researcher: José María González-Granado
Research Centre: Centro Nacional de Investigaciones Cardiovasculares (CNIC). Madrid.


Models for congenital muscular dystrophies: the search for phenotype suppressors
Lead Researcher: Enrique Martín Blanco
Research Centre: Instituto de Biología Molecular de Barcelona. CSIC.


Identification of the function of the Wt1gene in Huntington's disease
Lead Researcher: Ofelia M. Martínez Estrada
Research Centre: Departamento de Biología Celular. Universidad de Barcelona.


Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life
Lead Researcher: Mercedes Martínez-Pardo Casanova
Research Centre: CSUR (Centro de Referencia Nacional) de Enfermedades Metabólicas poco frecuentes. Hospital Universitario Ramón y Cajal. Madrid.


Study of the molecular bases of hereditary blindness
Lead Researcher: Ana Méndez Zunzunegui
Research Centre: Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.


Agenesis of the corpus callosum. Basic mechanisms and treatment
Lead Researcher: Marta Nieto López
Research Centre: Centro Nacional de Biotecnología (CNB). CSIC. Madrid.


Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
Lead Researcher: Rebeca Pérez de Diego
Research Centre: IdiPAZ, Instituto de Investigación Sanitaria del Hospital Universitario La Paz. Madrid.


The nuclear lamin in Huntington's disease: its role in the pathology and therapeutic applications
Lead Researcher: Esther Pérez-Navarro
Research Centre: Universidad de Barcelona.


Genome and transcriptome analysis to identify splicing defects and in vivo evaluation of antisense therapy
Lead Researcher: Lourdes Ruiz Desviat
Research Centre: Centro de Biología Molecular Severo Ochoa. CSIC-UAM.


Molecular mechanisms in Dravet's síndrome
Lead Researcher: Francisco Zafra Gómez
Research Centre: Centro de Biología Molecular Severo Ochoa. CSIC-UAM.


16th National Programme

June 27, 2012 - June 27, 2015

The complete sequencing of the exomic genome of systemic lupus erythematosus in families of European origin with multiple cases: the identification of rare mutations and their functional consequences.
Lead Researcher: Marta Eugenia Alarcón Riquelme
Research Centre: Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica (GENYO). Granada. (Spain).


The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms.
Lead Researcher: Guillermo Antiñolo Gil
Research Centre: Hospital Universitario Virgen del Rocío. Sevilla. (Spain).


Chronic activation of the TGF-beta route in Marfan's syndrome: deregulation of intracellular traffic and the extracellular matrix
Lead Researcher: Gustavo Egea Guri
Research Centre: Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona. (Spain).


The transplant of bioengineered skin for cutaneous regeneration in patients with Dystrophic Epidermolysis Bullosa.
Lead Researcher:
María José Escámez Toledano
Research Centre:Universidad Carlos III, Madrid. (Spain).


The correction of fibroblasts with mutations causing Wiskott Aldrich syndrome by means of adeno-associated viruses (AAV). The effects of corrective methods on cellular reprogramming by means of episomal vectors
Lead Researcher: Miguel Ángel de la Fuente García
Research Centre: Instituto de Biología y Genética Molecular (IBGM). CSIC-Universidad de Valladolid. (Spain).


The identification of genetic factors predicting for clonal progression in Systemic Mastocytosis
Lead Researcher: Andrés Celestino García Montero
Research Centre: Fundación de Investigación del Cáncer de la Universidad de Salamanca. (Spain).


Modification of the folding and function of mutated opsins by cellular factors as a new therapeutic strategy for degenerative diseases of the retina
Lead Researcher: Pere Garriga Solé
Research Centre: Universidad Politécnica de Cataluña. Barcelona. (Spain).


Cdk5: a therapeutic target for the treatment of motor and cognitive deficits in Huntington's disease
Lead Researcher: Silvia Ginés Padrós
Research Centre: Universidad de Barcelona. (Spain).


Modulation of the pathological accumulation of glycogen: therapeutic target for the treatment of Glycogenosis
Lead Researcher: Joan J. Guinovart Cirera
Research Centre: Instituto de Investigación Biomédica (IRB). Barcelona. (Spain).


Directed neuronal differentiation of stem-like glioma initiating cells
Lead Researcher: Núria de la Iglesia Zaragoza
Research Centre: Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona. (Spain).


Analysis of the contribution of CRB2 protein to the establishment and permanence of adherent joins in the pigmentary epithelium, and its relationship with retinal dystrophies
Lead Researcher:
Mª Concepción Lillo Delgado
Research Centre:Instituto de Neurociencias de Castilla y León. Universidad de Salamanca. (Spain).


Molecular mechanisms, experimental models and therapeutic approaches in Frontotemporal Lobe Dementia (DLFT-TDP)
Lead Researcher: Ángeles Martín Requero
Research Centre: Centro de Investigaciones Biológicas. CSIC. Madrid. (Spain).


The development of molecular scalpels for the repair of genes involved in single gene diseases
Lead Researcher: Guillermo Montoya Blanco
Research Centre: Centro Nacional de Investigaciones Oncológicas. Madrid. (Spain).


Dominant autosomal sensorineural hypoacusis: expansion of molecular diagnosis by applying new technologies, undertaking functional analysis and creating murine models
Lead Researcher: Miguel Ángel Moreno Pelayo
Research Centre: Hospital Universitario Ramón y Cajal, IRYCIS. Madrid. (Spain).


Allan-Herndon-Dudley syndrome: molecular mechanisms and a therapeutic approach in the murine model of the disease
Lead Researcher:
Beatriz Morte Molina
Research Centre: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-Instituto de Investigaciones Biomédicas. CSIC-Universidad Autónoma de Madrid. (Spain).


Pathological mechanisms in Lysinuria with protein intolerance
Lead Researcher: Manuel Palacín Prieto
Research Centre: Instituto de Investigación Biomédica (IRB). Barcelona. (Spain).


Study of the functional implications of GRK2 serine-threonine kinase in Hereditary Haemorrhagic Telangiectasia
Lead Researcher:
Petronila Penela Márquez
Research Centre: Centro de Biología Molecular Severo Ochoa. CSIC-Universidad Autónoma de Madrid. (Spain).


Hereditary metabolic diseases: searching for new genes that cause diseases and research into new therapeutic strategies
Lead Researcher: María del Pilar Rodríguez Pombo
Research Centre: Universidad Autónoma de Madrid. (Spain).


Translational Research into rare diseases of iron metabolism using massive parallel sequencing
Lead Researcher: María del Carmen Sánchez Fernández
Research Centre: Instituto de Medicina Predictiva y Personalizada del Cáncer. Barcelona. (Spain).


Study of the role of PSGL-1 in the control of the development of autoimmune diseases
Lead Researcher:
Ana Carmen Urzainqui Mayayo
Research Centre: Hospital Universitario de la Princesa. Madrid. (Spain).


Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain
Lead Researcher:
Ana Vega Gliemmo
Research Centre: Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela. (Spain).


The molecular bases for variability in the presentation and clinical development of Wilson's disease
Lead Researcher: Ignacio Vicente-Sandoval Rodríguez
Research Centre: Centro de Biología Molecular Severo Ochoa. CSIC-UAM-CIBERehd. Madrid. (Spain).



15th National Programme

16th March 2010 - 16th March 2013

Study of the regulation of protein PSTPIP1 via tyrosine phosphorylation and its contribution to the aetiology of the PAPA autoinflammatory disease.
Lead Researcher: Andrés Alonso García
Research Centre: Instituto de Biología y Genética Molecular. CSIC. Valladolid. (Spain).


New therapeutic targets for myotonic dystrophy: analysis of microRNAs in two animal models of the disease
Lead Researcher: Rubén Darío Artero Allepuz 
Research Centre: Facultad de Biología. Universidad de Valencia. (Spain).


Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria
Lead Researcher: Ignacio del Castillo Fernández del Pino
Research Centre: Hospital Universitario Ramón y Cajal. Madrid. (Spain).


Study of the possible immunomodulation caused by Anisakis simplex larval antigens
Lead Researcher: María del Carmen Cuéllar del Hoyo
Research Centre: Facultad de Farmacia. Universidad Complutense. Madrid. (Spain).


Type 1 Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics
Lead Researcher: Francisco España Furió
Research Centre: Hospital Universitario La Fe. Valencia. (Spain).


Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome
Lead Researcher: José Antonio Esteban García
Research Centre: Centro de Biología Molecular "Severo Ochoa". CSIC-UAM. (Spain).


Testing xenoexpression as gene therapy for mitochondrial diseases
Lead Researcher: Patricio Fernández Silva
Research Centre: Facultad de Veterinaria. Universidad de Zaragoza. (Spain).


Alternative therapies for inherited metabolic diseases
Lead Researcher:
Alejandra Gámez Abascal
Research Centre: Centro de Biología Molecular "Severo Ochoa". CSIC-UAM. (Spain).


Towards a complete model of the molecular network disrupted in Fanconi anaemia
Lead Researcher: Miguel Ángel Genestar Pujana
Research Centre: Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona. (Spain).


Involvement of Ras oncogenes in the development of Costello and Noonan syndromes
Lead Researcher: Carmen Guerra González
Research Centre: Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid. (Spain).


Detection of molecules related to the mechanism of protection against canine Leishmaniasis. Differential gene expression in cells activated during the protection response induced by the LACK vaccine 
Lead Researcher: Vicente Emilio Larraga Rodríguez de Vera
Research Centre: Centro de Investigaciones Biológicas. CSIC. Madrid. (Spain).


Analysis using genetically modified mice of the possible role of alpha-synuclein in the pathogenesis of Huntington's disease
Lead Researcher: José Javier Lucas Lozano
Research Centre: Centro de Biología Molecular "Severo Ochoa". CSIC-UAM. (Spain).


Structural approach to the molecular basis of two rare kidney diseases
Lead Researcher: Óscar Llorca Blanco
Research Centre: Centro de Investigaciones Biológicas. CSIC. Madrid. (Spain).


Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders
Lead Researcher: Marcos Malumbres Martínez
Research Centre: Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid. (Spain).


Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase
Lead Researcher: Óscar Millet Aguilar-Galindo
Research Centre: Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya. (Spain).


Development of a vaccine against Fasciola hepatica based on the use of bioinformatics tools 
Lead Researcher: Antonio Muro Álvarez
Research Centre: Centro de Investigación de Enfermedades Tropicales de la Universidad de Salamanca (CIETUS). Salamanca. (Spain).


Sp2-iminosugars as chemical chaperones: a general strategy for the treatment of lysosomal storage disorders
Lead Researcher: Carmen Ortiz Mellet
Research Centre: Facultad de Química. Universidad de Sevilla. (Spain).


Development of a therapy for the treatment of congenital dyskeratosis, X-linked Werner syndrome and aplastic anaemia based on the reactivation of telomerase activity by an internal fragment of dyskerin
Lead Researcher: Rosario Perona Abellón
Research Centre: Instituto de Investigaciones Biomédicas de Madrid. CSIC-UAM. (Spain).


Contributions of aquaporins and transduction proteins in the treatment of achondroplasia
Lead Researcher: Jesús Pintor Just
Research Centre: Escuela Universitaria de Óptica. Universidad Complutense. Madrid. (Spain).


Characterisation of the autoantigen epitope in Goodpasture syndrome using phage display technology
Lead Researcher Jesús Rodríguez Díaz
Research Centre: Instituto de Agroquímica y Tecnología de Alimentos (IATA). CSIC. Valencia. (Spain).


Effect of the oleic acid neurotrophic factor in an animal model of Down syndrome. Implications for central nervous system development
Lead Researcher: Ana Velasco Criado
Research Centre: Instituto de Neurociencias de Castilla y León. Universidad de Salamanca. (Spain).


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