List of projects - Fundación Ramón Areces

Phenotyping of animal models of rare diseases with visual disability

2020

Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid

more information on Phenotyping of animal models of rare diseases with visual disability

The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development

2020

Senior Researcher : Beatriz López Corcuera Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM

more information on The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development

Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation

2020

Senior Researcher : Pedro Redondo Bellón Research Centre or Institution : Clínica Universidad de Navarra. Pamplona

more information on Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation

Propionic acidemia: impact on the epigenome and the proteome in relation to the cardiac and neurological phenotype

2020

Senior Researcher : Eva María Richard Rodríguez Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM

more information on Propionic acidemia: impact on the epigenome and the proteome in relation to the cardiac and neurological phenotype

Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases

2020

Senior Researcher : Vicente Rubio Zamora Research Centre or Institution : Instituto de Biomedicina de Valencia. CSIC.

more information on Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases

Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease

2018

Senior Researcher : Juan Pedro Bolaños Hernández Research Centre or Institution : Instituto de Biología Funcional y Genómica, Universidad de Salamanca-CSIC

more information on Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease

Gene therapy to correct glutaric aciduria type 1 in Gcdh -1- mice

2018

Senior Researcher : Cristina Fillat Fonts Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.

more information on Gene therapy to correct glutaric aciduria type 1 in Gcdh -1- mice

Systems medicine applied to the identification of new therapeutic targets in rare genetic-based diseases

2018

Senior Researcher : Juan Antonio García Ranea Research Centre or Institution : CIBERER. Universidad de Málaga

more information on Systems medicine applied to the identification of new therapeutic targets in rare genetic-based diseases

Advanced gene editing technologies to restore LAMA2 on merosin-deficient congenital muscular dystrophy type 1A

2018

Senior Researcher : Marc Güell Cargol Research Centre or Institution : Universidad Pompeu Fabra. Barcelona

more information on Advanced gene editing technologies to restore LAMA2 on merosin-deficient congenital muscular dystrophy type 1A

Molecular mechanisms underlying Zic2-associated holoprosencephaly

2018

Senior Researcher : Eloisa Herrera González de Molina Research Centre or Institution : Instituto de Neurociencias. CSIC-Universidad Miguel Hernández. Alicante.

more information on Molecular mechanisms underlying Zic2-associated holoprosencephaly

New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair

2018

Senior Researcher : Pablo Huertas Sánchez Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)

more information on New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair

Artificial intelligence and machine learning in human diseases

2018

Senior Researcher : Pablo Lapunzina Badía Research Centre or Institution : INGEMM-Hospital Universitario La Paz-CIBERER. Madrid

more information on Artificial intelligence and machine learning in human diseases

Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease

2018

Senior Researcher : María Luisa Toribio García Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

more information on Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease

Therapeutic strategy against Huntington's disease through the synergistic activation of AMPK

2018

Senior Researcher : Rafael Vázquez Manrique Research Centre or Institution : Instituto de Investigación Sanitaria La Fe. Valencia

more information on Therapeutic strategy against Huntington's disease through the synergistic activation of AMPK

Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies

2018

Senior Researcher : Juan Viña Ribes Research Centre or Institution : Universidad de Valencia.

more information on Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies

The function of the E3 ubiquitin ligase APC/C-Cdh1 in Fragile X Syndrome. Possible therapeutic application

2016

Senior Researcher : Ángeles Almeida Parra Research Centre or Institution : Instituto de Investigación Biomédica de Salamanca (IBSAL). CSIC-Universidad de Salamanca.

more information on The function of the E3 ubiquitin ligase APC/C-Cdh1 in Fragile X Syndrome. Possible therapeutic application

A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing

2016

Senior Researcher : Carmen Ayuso García Research Centre or Institution : Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM). CIBERER. Madrid.

more information on A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing

Systemic analysis of the gene regulatory networks involved in the specification and maintenance of the retinal pigment epithelium: towards new therapies for retinal degenerative diseases

2016

Senior Researcher : Paola Bovolenta Nicolao Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

more information on Systemic analysis of the gene regulatory networks involved in the specification and maintenance of the retinal pigment epithelium: towards new therapies for retinal degenerative diseases

Dyskeratosis congenita. New models, New molecular keys and New treatments

2016

Senior Researcher : María Luisa Cayuela Fuentes Research Centre or Institution : Hospital Clínico Universitario Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca. El Palmar, Murcia.

more information on Dyskeratosis congenita. New models, New molecular keys and New treatments

Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)

2016

Investigador Principal: César Cobaleda Hernández Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)

Visualisation of neuronal polysomal architecture and its alterations in Huntington's Disease

2016

Investigador Principal: José Jesús Fernández Rodríguez Centro de investigación o Institución: Centro Nacional de Biotecnología (CNB). CSIC. Madrid

más información sobre Visualisation of neuronal polysomal architecture and its alterations in Huntington's Disease

Modeling of familial cerebral cavernous malformation through cellular reprogramming

2016

Investigador Principal: Miguel Ángel Fidalgo Pérez Centro de investigación o Institución: Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS). Universidad de Santiago de Compostela

más información sobre Modeling of familial cerebral cavernous malformation through cellular reprogramming

Phosphodiesterase inhibitors as Friedreich's ataxia treatment

2016

Investigador Principal: Pilar González Cabo Centro de investigación o Institución: Centro de Investigación Biomédica en Red (CIBER de Enfermedades Raras). Facultad de Medicina y Odontología. Universidad de Valencia

más información sobre Phosphodiesterase inhibitors as Friedreich's ataxia treatment

Activation of innate immunity in dysferlin-deficient cells: new therapeutic targets

2016

Investigador Principal: Noemí de Luna Salvà

más información sobre Activation of innate immunity in dysferlin-deficient cells: new therapeutic targets

The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model (NeuroCopper)

2016

Investigador Principal: Francesc Palau Martínez Centro de investigación o Institución: Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona.

más información sobre The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model (NeuroCopper)

Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias

2016

Investigador Principal: María del Carmen Sánchez Fernández Centro de investigación o Institución: Instituto de Investigación contra la Leucemia Josep Carreras (IJC). Barcelona.

más información sobre Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias

Astrocytes: new anti-epileptic targets in Lafora disease

2016

Investigador Principal: Pascual Felipe Sanz Bigorra

más información sobre Astrocytes: new anti-epileptic targets in Lafora disease

AGC1 deficiency and calcium signaling in mitochondria: a new disease model for the study of pathogenic mechanisms and for the development of therapeutic strategies

2016

Investigador Principal: Jorgina Satrústegui Gil-Delgado Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre AGC1 deficiency and calcium signaling in mitochondria: a new disease model for the study of pathogenic mechanisms and for the development of therapeutic strategies

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

2014

Investigador Principal: José Manuel Bautista Santa Cruz Centro de investigación o Institución: Instituto de Investigación Hospital 2 de Octubre. Madrid.

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

Cellular response to blocked breakages of DNA and its role in the pathogenesis of Ataxia-Telangiectasia

2014

Investigador Principal: Felipe Cortés Ledesma Centro de investigación o Institución: Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)

más información sobre Cellular response to blocked breakages of DNA and its role in the pathogenesis of Ataxia-Telangiectasia

Characterisation of MORC2, a new gene involved in peripheral neuropathies

2014

Investigador Principal: Carmen Espinós Armero Centro de investigación o Institución: Centro de Investigación Príncipe Felipe

más información sobre Characterisation of MORC2, a new gene involved in peripheral neuropathies

Molecular therapy for Laminopathies

2014

Investigador Principal: Ana María González García Centro de investigación o Institución: Centro Nacional de Biotecnología (CNB). CSIC. Madrid

más información sobre Molecular therapy for Laminopathies

New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome

2014

Investigador Principal: José María González-Granado Centro de investigación o Institución: Centro Nacional de Investigaciones Cardiovasculares (CNIC). Madrid

más información sobre New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome

Models for congenital muscular dystrophies: the search for phenotype suppressors

2014

Investigador Principal: Enrique Martín Blanco Centro de investigación o Institución: Instituto de Biología Molecular de Barcelona. CSIC.

más información sobre Models for congenital muscular dystrophies: the search for phenotype suppressors

Identification of the function of the Wt1gene in Huntington's disease

2014

Investigador Principal: Ofelia M. Martínez Estrada Centro de investigación o Institución: Departamento de Biología Celular. Universidad de Barcelona

más información sobre Identification of the function of the Wt1gene in Huntington's disease

Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life

2014

Investigador Principal: Mercedes Martínez-Pardo Casanova Centro de investigación o Institución: CSUR (Centro de Referencia Nacional) de Enfermedades Metabólicas poco frecuentes. Hospital Universitario Ramón y Cajal (Madrid)

más información sobre Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life

Study of the molecular bases of hereditary blindness

2014

Investigador Principal: Ana Méndez Zunzunegui Centro de investigación o Institución: Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.

más información sobre Study of the molecular bases of hereditary blindness

Agenesis of the corpus callosum. Basic mechanisms and treatment

2014

Investigador Principal: Marta Nieto López Centro de investigación o Institución: Centro Nacional de Biotecnología (CNB). CSIC. Madrid

más información sobre Agenesis of the corpus callosum. Basic mechanisms and treatment

Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches

2014

Investigador Principal: Rebeca Pérez de Diego Centro de investigación o Institución: IdiPAZ, Instituto de Investigación Sanitaria del Hospital Universitario La Paz. Madrid.

más información sobre Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches

The nuclear lamin in Huntington's disease: its role in the pathology and therapeutic applications

2014

Investigador Principal: Esther Pérez-Navarro Centro de investigación o Institución: Universidad de Barcelona.

más información sobre The nuclear lamin in Huntington's disease: its role in the pathology and therapeutic applications

Genome and transcriptome analysis to identify splicing defects and in vivo evaluation of antisense therapy

2014

Investigador Principal: Lourdes Ruiz Desviat Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre Genome and transcriptome analysis to identify splicing defects and in vivo evaluation of antisense therapy

Molecular mechanisms in Dravet's syndrome

2014

Investigador Principal: Francisco Zafra Gómez Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre Molecular mechanisms in Dravet's syndrome

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

2011

Investigador Principal: Marta Eugenia Alarcón Riquelme Centro de investigación o Institución: Centro Pfizer. Universidad de Granada. Junta de Andalucía de Genómica e Investigación Oncológica (GENYO). Granada

más información sobre 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

The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms

2011

Investigador Principal: Guillermo Antiñolo Gil Centro de investigación o Institución: Hospital Universitario Virgen del Rocío. Sevilla.

más información sobre The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms

Chronic activation of the TGF‑beta route in Marfan's syndrome: deregulation of intracellular traffic and the extracellular matrix

2011

Investigador Principal: Gustavo Egea Guri Centro de investigación o Institución: Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.

más información sobre Chronic activation of the TGF‑beta route in Marfan's syndrome: deregulation of intracellular traffic and the extracellular matrix

The transplant of bioengineered skin for cutaneous regeneration in patients with Dystrophic Epidermolysis Bullosa

2011

Investigador Principal: María José Escámez Toledano Centro de investigación o Institución: Universidad Carlos III de Madrid.

más información sobre The transplant of bioengineered skin for cutaneous regeneration in patients with Dystrophic Epidermolysis Bullosa

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

2011

Investigador Principal: Miguel Ángel de la Fuente García Centro de investigación o Institución: Instituto de Biología y Genética Molecular (IBGM).Valladolid.

más información sobre 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

The identification of genetic factors predicting for clonal progression in Systemic Mastocytosis

2011

Investigador Principal: Andrés Celestino García Montero Centro de investigación o Institución: Instituto de Biología Molecular y Celular del Cáncer. Universidad de Salamanca-CSIC.

más información sobre The identification of genetic factors predicting for clonal progression in Systemic Mastocytosis

Modification of the folding and function of mutated opsins by cellular factors as a new therapeutic strategy for degenerative diseases of the retina

2011

Investigador Principal: Pere Garriga Solé Centro de investigación o Institución: Universidad Politécnica de Cataluña. Barcelona.

más información sobre Modification of the folding and function of mutated opsins by cellular factors as a new therapeutic strategy for degenerative diseases of the retina

Cdk5: a therapeutic target for the treatment of motor and cognitive deficits in Huntington's disease

2011

Investigador Principal: Silvia Ginés Padrós Centro de investigación o Institución: Universidad de Barcelona.

más información sobre Cdk5: a therapeutic target for the treatment of motor and cognitive deficits in Huntington's disease

Modulation of the pathological accumulation of glycogen: therapeutic target for the treatment of Glycogenosis

2011

Investigador Principal: Joan J. Guinovart Cirera Centro de investigación o Institución: Instituto de Investigación Biomédica (IRB) Barcelona.

más información sobre Modulation of the pathological accumulation of glycogen: therapeutic target for the treatment of Glycogenosis

Directed neuronal differentiation of stem-like glioma initiating cells

2011

Investigador Principal: Núria de la Iglesia Zaragoza Centro de investigación o Institución: Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.

más información sobre Directed neuronal differentiation of stem-like glioma initiating cells

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

2011

Investigador Principal: Mª Concepción Lillo Delgado Centro de investigación o Institución: Instituto de Neurociencias de Castilla y León. Universidad de Salamanca.

más información sobre 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

Molecular mechanisms, experimental models and therapeutic approaches in Frontotemporal Lobe Dementia (DLFT-TDP)

2011

Investigador Principal: Ángeles Martín Requero Centro de investigación o Institución: Centro de Investigaciones Biológicas (CSIC)

más información sobre Molecular mechanisms, experimental models and therapeutic approaches in Frontotemporal Lobe Dementia (DLFT-TDP)

The development of molecular scalpels for the repair of genes involved in single gene diseases

2011

Investigador Principal: Guillermo Montoya Blanco Centro de investigación o Institución: Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid

más información sobre The development of molecular scalpels for the repair of genes involved in single gene diseases

Dominant autosomal sensorineural hypoacusis: expansion of molecular diagnosis by applying new technologies, undertaking functional analysis and creating murine models

2011

Investigador Principal: Miguel Ángel Moreno Pelayo Centro de investigación o Institución: Hospital Universitario Ramón y Cajal, IRYCIS. Madrid.

más información sobre Dominant autosomal sensorineural hypoacusis: expansion of molecular diagnosis by applying new technologies, undertaking functional analysis and creating murine models

Allan-Herndon-Dudley syndrome: molecular mechanisms and a therapeutic approach in the murine model of the disease

2011

Investigador Principal: Beatriz Morte Molina Centro de investigación o Institución: Centros de Investigación Biomédica en Red (CIBER). Madrid

más información sobre Allan-Herndon-Dudley syndrome: molecular mechanisms and a therapeutic approach in the murine model of the disease

Pathological mechanisms in Lysinuria with protein intolerance

2011

Investigador Principal: Manuel Palacín Prieto Centro de investigación o Institución: Instituto de Investigación Biomédica (IRB) Barcelona.

más información sobre Pathological mechanisms in Lysinuria with protein intolerance

Study of the functional implications of GRK2 serine-threonine kinase in Hereditary Haemorrhagic Telangiectasia

2011

Investigador Principal: Petronila Penela Márquez Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre Study of the functional implications of GRK2 serine-threonine kinase in Hereditary Haemorrhagic Telangiectasia

Hereditary metabolic diseases: searching for new genes that cause diseases and research into new therapeutic strategies

2011

Investigador Principal: Mª del Pilar Rodríguez Pombo Centro de investigación o Institución: Universidad Autónoma de Madrid.

más información sobre Hereditary metabolic diseases: searching for new genes that cause diseases and research into new therapeutic strategies

Translational Research into rare diseases of iron metabolism using massive parallel sequencing

2011

Investigador Principal: Mª del Carmen Sánchez Fernández Centro de investigación o Institución: Instituto de Medicina Predictiva y Personalizada del Cáncer. Barcelona.

más información sobre Translational Research into rare diseases of iron metabolism using massive parallel sequencing

Study of the role of PSGL-1 in the control of the development of autoimmune diseases

2011

Investigador Principal: Ana Carmen Urzainqui Mayayo Centro de investigación o Institución: Hospital Universitario de la Princesa. Madrid.

más información sobre Study of the role of PSGL-1 in the control of the development of autoimmune diseases

Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain

2011

Investigador Principal: Ana Vega Gliemmo Centro de investigación o Institución: Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela.

más información sobre Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain

The molecular bases for variability in the presentation and clinical development of Wilson's disease

2011

Investigador Principal: Ignacio Vicente-Sandoval Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre The molecular bases for variability in the presentation and clinical development of Wilson's disease

New therapeutic targets for myotonic dystrophy: analysis of microRNAs in two animal models of the disease

2008

Investigador Principal: Rubén Darío Artero Allepuz Centro de investigación o Institución: Facultad de Biología. Universidad de Valencia

más información sobre New therapeutic targets for myotonic dystrophy: analysis of microRNAs in two animal models of the disease

Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria

2008

Investigador Principal: Ignacio del Castillo Fernández del Pino Centro de investigación o Institución: Hospital Universitario Ramón y Cajal. Madrid.

más información sobre Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria

Study of the possible immunomodulation caused by Anisakis simplex larval antigens

2008

Investigador Principal: María del Carmen Cuéllar del Hoyo Centro de investigación o Institución: Facultad de Farmacia. Universidad Complutense. Madrid

más información sobre Study of the possible immunomodulation caused by Anisakis simplex larval antigens

Type Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics

2008

Investigador Principal: Francisco España Furió Centro de investigación o Institución: Hospital Universitario La Fe. Valencia.

más información sobre Type Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics

Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome

2008

Investigador Principal: José Antonio Esteban García Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome

Alternative therapies for inherited metabolic diseases

2008

Investigador Principal: Alejandra Gámez Abascal Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre Alternative therapies for inherited metabolic diseases

Towards a complete model of the molecular network disrupted in Fanconi anaemia

2008

Investigador Principal: Miguel Ángel Genestar Pujana Centro de investigación o Institución: Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.

más información sobre Towards a complete model of the molecular network disrupted in Fanconi anaemia

Involvement of Ras oncogenes in the development of Costello and Noonan syndromes

2008

Investigador Principal: Carmen Guerra González Centro de investigación o Institución: Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid

más información sobre Involvement of Ras oncogenes in the development of Costello and Noonan syndromes

Analysis using genetically modified mice of the possible role of alpha-synuclein in the pathogenesis of Huntington's disease

2008

Investigador Principal: José Javier Lucas Lozano Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

más información sobre Analysis using genetically modified mice of the possible role of alpha-synuclein in the pathogenesis of Huntington's disease

Structural approach to the molecular basis of two rare kidney diseases

2008

Investigador Principal: Óscar Llorca Blanco Centro de investigación o Institución: Centro de Investigaciones Biológicas (CSIC)

más información sobre Structural approach to the molecular basis of two rare kidney diseases

Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders

2008

Investigador Principal: Marcos Malumbres Martínez Centro de investigación o Institución: Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid

más información sobre Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders

Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase

2008

Investigador Principal: Óscar Millet Aguilar-Galindo Centro de investigación o Institución: Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya.

más información sobre Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase

Development of a vaccine against Fasciola hepatica based on the use of bioinformatics tools

2008

Investigador Principal: Antonio Muro Álvarez Centro de investigación o Institución: Centro de Investigación de Enfermedades Tropicales de la Universidad de Salamanca (CIETUS)

más información sobre Development of a vaccine against Fasciola hepatica based on the use of bioinformatics tools

Sp2-iminosugars as chemical chaperones: a general strategy for the treatment of lysosomal storage disorders

2008

Investigador Principal: Carmen Ortiz Mellet Centro de investigación o Institución: Facultad de Química. Universidad de Sevilla

más información sobre Sp2-iminosugars as chemical chaperones: a general strategy for the treatment of lysosomal storage disorders

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

2008

Investigador Principal: Rosario Perona Abellón Centro de investigación o Institución: Instituto de Investigaciones Biomédicas de Madrid. CSIC-UAM.

más información sobre 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

Contributions of aquaporins and transduction proteins in the treatment of achondroplasia

2008

Investigador Principal: Jesús Pintor Just Centro de investigación o Institución: Escuela Universitaria de Óptica. Universidad Complutense. Madrid

más información sobre Contributions of aquaporins and transduction proteins in the treatment of achondroplasia

Characterisation of the autoantigen epitope in Goodpasture syndrome using phage display technology

2008

Investigador Principal: Jesús Rodríguez Díaz Centro de investigación o Institución: Instituto de Agroquímica y Tecnología deAlimentos(IATA). CSIC. Valencia. (Spain).

más información sobre Characterisation of the autoantigen epitope in Goodpasture syndrome using phage display technology

Effect of the oleic acid neurotrophic factor in an animal model of Down syndrome. Implications for central nervous system development

2008

Investigador Principal: Ana Velasco Criado Centro de investigación o Institución: Instituto de Neurociencias de Castilla y León. Universidad de Salamanca.

más información sobre Effect of the oleic acid neurotrophic factor in an animal model of Down syndrome. Implications for central nervous system development

Study of the regulation of protein PSTPIP1 via tyrosine phosphorylation and its contribution to the aetiology of the PAPA autoinflammatory disease

2008

Investigador Principal: Andrés Alonso García Centro de investigación o Institución: Instituto de Biología y Genética Molecular. CSIC. Valladolid.

más información sobre Study of the regulation of protein PSTPIP1 via tyrosine phosphorylation and its contribution to the aetiology of the PAPA autoinflammatory disease

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

2008

Investigador Principal: Vicente Emilio Larraga Rodríguez de Vera Centro de investigación o Institución: Centro de Investigaciones Biológicas (CSIC)

más información sobre 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

Therapeutic trials in cells from patients suffering hereditary haemorrhagic telangiectasis (HHT) and cell gene therapy employing endothelial progenitor cells in an HHT murine model

2006

Investigador Principal: Luisa María Botella Cubells Centro de investigación o Institución: Centro de Investigaciones Biológicas (CSIC)

más información sobre Therapeutic trials in cells from patients suffering hereditary haemorrhagic telangiectasis (HHT) and cell gene therapy employing endothelial progenitor cells in an HHT murine model

Characterisation of the astrocytic function in megalencephalic leukoencephalopathy

2006

Investigador Principal: Raúl Estévez Povedano Centro de investigación o Institución: Instituto de Investigaciones Biomédicas de Bellvitge-Universidad de Barcelona.

más información sobre Characterisation of the astrocytic function in megalencephalic leukoencephalopathy

Neurobiological foundations of and genetic susceptibility to fibromyalgia

2006

Investigador Principal: Manuel J. López Pérez Centro de investigación o Institución: Facultad de Veterinaria. Universidad de Zaragoza

más información sobre Neurobiological foundations of and genetic susceptibility to fibromyalgia

Integration and modelling of the metabolism and biological effects of the biogenic amines, biomolecules directly involved in rare and emerging diseases

2006

Investigador Principal: Miguel Ángel Medina Torres Centro de investigación o Institución: Facultad de Ciencias. Universidad de Málaga

más información sobre Integration and modelling of the metabolism and biological effects of the biogenic amines, biomolecules directly involved in rare and emerging diseases

Characterisation and study of the implications of copy number variations in patients with X chromosome-related mental retardation

2006

Investigador Principal: Montserrat Milà Recasens Centro de investigación o Institución: Fundació Clínic per a la Recerca Biomèdica. Hospital Clínic. Barcelona

más información sobre Characterisation and study of the implications of copy number variations in patients with X chromosome-related mental retardation

Dendritic alterations in Down's Syndrome: the role of the pathway regulating local mTOR translation

2006

Investigador Principal: María de la Luz Montesinos Gutiérrez Centro de investigación o Institución: Facultad de Medicina. Universidad de Sevilla

más información sobre Dendritic alterations in Down's Syndrome: the role of the pathway regulating local mTOR translation

Molecular foundations of the human ectodermic dysplasia syndrome

2006

Investigador Principal: Paloma Pérez Sánchez Centro de investigación o Institución: Instituto de Biomedicina de Valencia. CSIC.

más información sobre Molecular foundations of the human ectodermic dysplasia syndrome

Study of the role of the epigenetic mechanisms in the Fanconi Anaemia cancer tendency phenotype

2006

Investigador Principal: Carlos Pipaón González Centro de investigación o Institución: Hospital Universitario Marqués de Valdecilla. Universidad de Cantabria. Santander.

más información sobre Study of the role of the epigenetic mechanisms in the Fanconi Anaemia cancer tendency phenotype

Molecular analysis of the Ellis-van Creveld Syndrome in the EVC3 epiphyseal growth plate and evaluation of the BBS-EvC connection

2006

Investigador Principal: Víctor Luis Ruiz Pérez Centro de investigación o Institución: Instituto de Investigaciones Biomédicas "Alberto Sols". CSIC-Universidad Autónoma de Madrid.

más información sobre Molecular analysis of the Ellis-van Creveld Syndrome in the EVC3 epiphyseal growth plate and evaluation of the BBS-EvC connection

Study of the molecular foundations of congenital malformations: cardiovascular, oculofacial and skeletal

2006

Investigador Principal: María José Trujillo Tiebas Centro de investigación o Institución: Fundación Jiménez Díaz. Madrid

más información sobre Study of the molecular foundations of congenital malformations: cardiovascular, oculofacial and skeletal

Research projects