List of projects - Fundación Ramón Areces

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

2016

Senior Researcher : Noemí de Luna Salvà

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

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

Senior Researcher : Jorgina Satrústegui Gil-Delgado Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

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

Astrocytes: new anti-epileptic targets in Lafora disease

2016

Senior Researcher : Pascual Felipe Sanz Bigorra

more information on Astrocytes: new anti-epileptic targets in Lafora disease

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

Modeling of familial cerebral cavernous malformation through cellular reprogramming

2016

Senior Researcher : Miguel Ángel Fidalgo Pérez Research Centre or Institution : Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS). Universidad de Santiago de Compostela

more information on Modeling of familial cerebral cavernous malformation through cellular reprogramming

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

2016

Senior Researcher : César Cobaleda Hernández Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

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

Phosphodiesterase inhibitors as Friedreich's ataxia treatment

2016

Senior Researcher : Pilar González Cabo Research Centre or Institution : Centro de Investigación Biomédica en Red (CIBER de Enfermedades Raras). Facultad de Medicina y Odontología. Universidad de Valencia

more information on Phosphodiesterase inhibitors as Friedreich's ataxia treatment

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

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

2016

Senior Researcher : Francesc Palau Martínez Research Centre or Institution : Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona.

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

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

Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias

2016

Senior Researcher : María del Carmen Sánchez Fernández Research Centre or Institution : Instituto de Investigación contra la Leucemia Josep Carreras (IJC). Barcelona.

more information on Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias

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

2016

Senior Researcher : José Jesús Fernández Rodríguez Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid

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

Agenesis of the corpus callosum. Basic mechanisms and treatment

2014

Senior Researcher : Marta Nieto López Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid

more information on Agenesis of the corpus callosum. Basic mechanisms and treatment

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

2014

Senior Researcher : Felipe Cortés Ledesma Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)

more information on 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

Senior Researcher : Carmen Espinós Armero Research Centre or Institution : Centro de Investigación Príncipe Felipe

more information on Characterisation of MORC2, a new gene involved in peripheral neuropathies

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

2014

Senior Researcher : Lourdes Ruiz Desviat Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

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

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

2014

Senior Researcher : Ofelia M. Martínez Estrada Research Centre or Institution : Departamento de Biología Celular. Universidad de Barcelona

more information on Identification of the function of the Wt1gene in Huntington's disease

Models for congenital muscular dystrophies: the search for phenotype suppressors

2014

Senior Researcher : Enrique Martín Blanco Research Centre or Institution : Instituto de Biología Molecular de Barcelona. CSIC.

more information on Models for congenital muscular dystrophies: the search for phenotype suppressors

Molecular mechanisms in Dravet's syndrome

2014

Senior Researcher : Francisco Zafra Gómez Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

more information on Molecular mechanisms in Dravet's syndrome

Molecular therapy for Laminopathies

2014

Senior Researcher : Ana María González García Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid

more information on 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

Senior Researcher : José María González-Granado Research Centre or Institution : Centro Nacional de Investigaciones Cardiovasculares (CNIC). Madrid

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

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

2014

Senior Researcher : Rebeca Pérez de Diego Research Centre or Institution : IdiPAZ, Instituto de Investigación Sanitaria del Hospital Universitario La Paz. Madrid.

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

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

2014

Senior Researcher : Mercedes Martínez-Pardo Casanova Research Centre or Institution : CSUR (Centro de Referencia Nacional) de Enfermedades Metabólicas poco frecuentes. Hospital Universitario Ramón y Cajal (Madrid)

more information on 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

Senior Researcher : Ana Méndez Zunzunegui Research Centre or Institution : Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.

more information on Study of the molecular bases of hereditary blindness

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

2014

Senior Researcher : Esther Pérez-Navarro Research Centre or Institution : Universidad de Barcelona.

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

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

2014

Senior Researcher : José Manuel Bautista Santa Cruz Research Centre or Institution : Instituto de Investigación Hospital 2 de Octubre. Madrid.

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

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

2011

Senior Researcher : Beatriz Morte Molina Research Centre or Institution : Centros de Investigación Biomédica en Red (CIBER). Madrid

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

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

Senior Researcher : Mª Concepción Lillo Delgado Research Centre or Institution : Instituto de Neurociencias de Castilla y León. Universidad de Salamanca.

more information on 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

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

2011

Senior Researcher : Silvia Ginés Padrós Research Centre or Institution : Universidad de Barcelona.

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

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

2011

Senior Researcher : Gustavo Egea Guri Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.

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

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

2011

Senior Researcher : Ana Vega Gliemmo Research Centre or Institution : Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela.

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

Directed neuronal differentiation of stem-like glioma initiating cells

2011

Senior Researcher : Núria de la Iglesia Zaragoza Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.

more information on Directed neuronal differentiation of stem-like glioma initiating cells

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

2011

Senior Researcher : Miguel Ángel Moreno Pelayo Research Centre or Institution : Hospital Universitario Ramón y Cajal, IRYCIS. Madrid.

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

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

2011

Senior Researcher : Mª del Pilar Rodríguez Pombo Research Centre or Institution : Universidad Autónoma de Madrid.

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

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

2011

Senior Researcher : Pere Garriga Solé Research Centre or Institution : Universidad Politécnica de Cataluña. Barcelona.

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

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

2011

Senior Researcher : Joan J. Guinovart Cirera Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona.

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

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

2011

Senior Researcher : Ángeles Martín Requero Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)

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

Pathological mechanisms in Lysinuria with protein intolerance

2011

Senior Researcher : Manuel Palacín Prieto Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona.

more information on Pathological mechanisms in Lysinuria with protein intolerance

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

2011

Senior Researcher : Petronila Penela Márquez Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

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

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

Senior Researcher : Marta Eugenia Alarcón Riquelme Research Centre or Institution : Centro Pfizer. Universidad de Granada. Junta de Andalucía de Genómica e Investigación Oncológica (GENYO). Granada

more information on 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 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

Senior Researcher : Miguel Ángel de la Fuente García Research Centre or Institution : Instituto de Biología y Genética Molecular (IBGM).Valladolid.

more information on 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 development of molecular scalpels for the repair of genes involved in single gene diseases

2011

Senior Researcher : Guillermo Montoya Blanco Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid

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

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

2011

Senior Researcher : Andrés Celestino García Montero Research Centre or Institution : Instituto de Biología Molecular y Celular del Cáncer. Universidad de Salamanca-CSIC.

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

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

Senior Researcher : Guillermo Antiñolo Gil Research Centre or Institution : Hospital Universitario Virgen del Rocío. Sevilla.

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

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

2011

Senior Researcher : Ignacio Vicente-Sandoval Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

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

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

2011

Senior Researcher : María José Escámez Toledano Research Centre or Institution : Universidad Carlos III de Madrid.

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

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

2011

Senior Researcher : Mª del Carmen Sánchez Fernández Research Centre or Institution : Instituto de Medicina Predictiva y Personalizada del Cáncer. Barcelona.

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

Alternative therapies for inherited metabolic diseases

2008

Senior Researcher : Alejandra Gámez Abascal Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

more information on Alternative therapies for inherited metabolic diseases

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

2008

Senior Researcher : José Javier Lucas Lozano Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

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

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

2008

Senior Researcher : Jesús Rodríguez Díaz Research Centre or Institution : Instituto de Agroquímica y Tecnología deAlimentos(IATA). CSIC. Valencia. (Spain).

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

Contributions of aquaporins and transduction proteins in the treatment of achondroplasia

2008

Senior Researcher : Jesús Pintor Just Research Centre or Institution : Escuela Universitaria de Óptica. Universidad Complutense. Madrid

more information on Contributions of aquaporins and transduction proteins in the treatment of achondroplasia

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

Senior Researcher : Vicente Emilio Larraga Rodríguez de Vera Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)

more information on 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

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

Senior Researcher : Rosario Perona Abellón Research Centre or Institution : Instituto de Investigaciones Biomédicas de Madrid. CSIC-UAM.

more information on 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

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

2008

Senior Researcher : Antonio Muro Álvarez Research Centre or Institution : Centro de Investigación de Enfermedades Tropicales de la Universidad de Salamanca (CIETUS)

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

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

2008

Senior Researcher : Ana Velasco Criado Research Centre or Institution : Instituto de Neurociencias de Castilla y León. Universidad de Salamanca.

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

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

2008

Senior Researcher : Marcos Malumbres Martínez Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid

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

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

2008

Senior Researcher : Carmen Guerra González Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid

more information on Involvement of Ras oncogenes in the development of Costello and Noonan syndromes

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

2008

Senior Researcher : José Antonio Esteban García Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

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

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

2008

Senior Researcher : Óscar Millet Aguilar-Galindo Research Centre or Institution : Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya.

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

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

2008

Senior Researcher : Ignacio del Castillo Fernández del Pino Research Centre or Institution : Hospital Universitario Ramón y Cajal. Madrid.

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

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

2008

Senior Researcher : Rubén Darío Artero Allepuz Research Centre or Institution : Facultad de Biología. Universidad de Valencia

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

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

2008

Senior Researcher : Carmen Ortiz Mellet Research Centre or Institution : Facultad de Química. Universidad de Sevilla

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

Structural approach to the molecular basis of two rare kidney diseases

2008

Senior Researcher : Óscar Llorca Blanco Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)

more information on Structural approach to the molecular basis of two rare kidney diseases

Study of the possible immunomodulation caused by Anisakis simplex larval antigens

2008

Senior Researcher : María del Carmen Cuéllar del Hoyo Research Centre or Institution : Facultad de Farmacia. Universidad Complutense. Madrid

more information on Study of the possible immunomodulation caused by Anisakis simplex larval antigens

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

2008

Senior Researcher : Andrés Alonso García Research Centre or Institution : Instituto de Biología y Genética Molecular. CSIC. Valladolid.

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

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

2008

Senior Researcher : Miguel Ángel Genestar Pujana Research Centre or Institution : Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.

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

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

2008

Senior Researcher : Francisco España Furió Research Centre or Institution : Hospital Universitario La Fe. Valencia.

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

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

2006

Senior Researcher : Montserrat Milà Recasens Research Centre or Institution : Fundació Clínic per a la Recerca Biomèdica. Hospital Clínic. Barcelona

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

Characterisation of the astrocytic function in megalencephalic leukoencephalopathy

2006

Senior Researcher : Raúl Estévez Povedano Research Centre or Institution : Instituto de Investigaciones Biomédicas de Bellvitge-Universidad de Barcelona.

more information on Characterisation of the astrocytic function in megalencephalic leukoencephalopathy

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

2006

Senior Researcher : María de la Luz Montesinos Gutiérrez Research Centre or Institution : Facultad de Medicina. Universidad de Sevilla

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

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

2006

Senior Researcher : Miguel Ángel Medina Torres Research Centre or Institution : Facultad de Ciencias. Universidad de Málaga

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

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

2006

Senior Researcher : Víctor Luis Ruiz Pérez Research Centre or Institution : Instituto de Investigaciones Biomédicas "Alberto Sols". CSIC-Universidad Autónoma de Madrid.

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

Molecular foundations of the human ectodermic dysplasia syndrome

2006

Senior Researcher : Paloma Pérez Sánchez Research Centre or Institution : Instituto de Biomedicina de Valencia. CSIC.

more information on Molecular foundations of the human ectodermic dysplasia syndrome

Neurobiological foundations of and genetic susceptibility to fibromyalgia

2006

Senior Researcher : Manuel J. López Pérez Research Centre or Institution : Facultad de Veterinaria. Universidad de Zaragoza

more information on Neurobiological foundations of and genetic susceptibility to fibromyalgia

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

2006

Senior Researcher : María José Trujillo Tiebas Research Centre or Institution : Fundación Jiménez Díaz. Madrid

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

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

2006

Senior Researcher : Carlos Pipaón González Research Centre or Institution : Hospital Universitario Marqués de Valdecilla. Universidad de Cantabria. Santander.

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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

Senior Researcher : Luisa María Botella Cubells Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)

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

Research projects