National Institute of Health Carlos III ( Instituto de Salud Carlos III / ISCIII), Spain

2018

A novel method for rapid molecular subgrouping of Medulloblastoma
Clinical, genomic and experimental studies for the characterization of molecular bases of aniridia and microphthalmia
Development of anti-inflammatory nanotherapies for retinitis pigmentosa
Membrane-anchored mucin study as a pharmacological target in idiopathic pulmonary fibrosis associated to pulmonary hypertension: preclinical and translational analysis
Precision medicine predicting the risk of colorectal cancer in patients with genetic diagnosis of Lynch syndrome

2017

3D bone biomodels for personalized surgical planning in patients with Ewing’s sarcoma and osteosarcoma
3D retinas derived from iPS cells as a tool to find effective therapies for inherited diseases of the retina
Analysis and monitoring of vascular remodeling and inflammatory processes during pulmonary arterial hypertension associated with hypoxia using new imaging techniques
Analysis of cellular heterogeneity and cytokines in patients with glioblastoma multiforme: impact on tumor progression and therapeutic utility
Analysis of genetic susceptibility factors and phenotype modifiers in the familial and sporadic forms of autoimmune myasthenia gravis using mass sequencing techniques
ANVERSE Study: Continuous and automatic analysis of electrocardiographic variables in relation to the risk of sudden death in patients with Brugada syndrome
Application of proteomics and systems biology to the study of the matromato and miRNAs in the Congenital Muscular Dystrophies
Biomarkers and targets of the cell nucleus in trinucleotides neurodegenerative diseases
Causal role and modifier of the Notch signaling pathway in muscular dystrophies: a specific study in relation to mutations in POGLUT1, DMD and TRIM32 genes
Characterization and relevance of the epigenetic environment in the development of Ewing sarcoma
Creation of a database of genetic variants in the gypsy population for the diagnosis and prevention of neuromuscular diseases
Cystinuria: Identification and characterization of new genes and modulators of cystine lithiasis as possible therapeutic targets
Decoding the genetic basis of Behçet disease
Detection and functional validation of the long non-coding RNAs specific in plasma cell in Multiple Myeloma
Development of a method for the diagnosis and monitoring of Optic Neuromyelitis (NMO)
Development of experimental models for the study, diagnosis and therapy of mitochondrial diseases
Development of new drugs and biomarkers for recurrent molecular alterations of ALK, RAS/RAF/MAPK/MEK, TERT and CHK1 in high-risk neuroblastoma
Development of strategies of Gene-Cell Therapy for the treatment of Bernard-Soulier Syndrome
Epigenetic responses to changes in the nuclear redox environment. Possible therapeutic targets in rare diseases
Establishment of a patient stratification system and evaluation of its use with epigenetic regulators in glioblastoma multiforme
Evaluation of 18F-FDG, 11C-MET and 11C-COL for the detection of tumor infiltration in Multiple Myeloma (MM): Translational study in preclinical and clinical models in patients (MIELOMAPET)
Genomic and epigenetic analysis of immunodermatological disorders, hidradenitis suppurativa familiar and SAPHO syndrome
Genomic and epigenetic approach for the identification of genes related to Hirschsprung disease and thyroid cancer
Genomic study of early-onset nephropathies
Genomics, preclinical and clinical studies as tools for personalized medicine in retinal dystrophies
Genomics, preclinical and clinical studies for a precision medicine in hereditary retinal dystrophies: Usher syndrome
Hereditary neuropathies in childhood and adolescence: genetic diagnosis and determinants of quality of life
Identification and characterization of new mitochondrial energy metabolism defects associated with 3-methylglutaconic aciduria
Identification of new candidate genes responsible for Angelman syndrome and development of a new diagnostic tool
Impact of the intestinal microbiota in the development of Juvenile Idiopathic Arthritis
Implications of immunosenescence in the design of antitumor immunotherapy protocols based on NK cells in melanoma and acute myeloid leukemia models
Imprinting disorders: low grade mosaicism or new candidate genes? – ES
Induction of preoperative plasticity in brain tumors of eloquent areas
Mechanisms involved in hematopoietic alterations and cancer in the dyskeratosis congenita. Search for therapies
Mechanisms of immunological control involved in the progression after treatment in multiple myeloma
Molecular alterations involved in the mechanisms of refractoriness and relapse of Acute Myeloid Leukemia: Therapeutic Implications
Molecular and cellular studies in Myasthenia Gravis: Clinical and therapeutic correlations
Molecular and genetic disorders in glomerulopathies caused by complement deregulation. Genotype-phenotype correlations and therapeutic implications
New advances in the characterization and treatment of McArdle disease: studies in the murine model of the disease and update of the European register of patients
New therapeutic targets in mitochondrial diseases
Pituitary adenomas of aggressive behavior. From the animal model to the patient. Role of hypoxia/HIF and PI3K/AKT signaling pathways in prognosis and as therapeutic targets
Role of MSCs in the pathogenesis of idiopathic pulmonary fibrosis (IPF) and analysis of their reparative / antiinflammatory capacity in an experimental model of pulmonary fibrosis
Study of cardiac extracellular matrix proteins involved in the development of ischemic heart disease, idiopathic dilated cardiomyopathy or hypertrophic cardiomyopathy
Study of distal myopathies: diagnosis using NGS, expansion of studies on their natural history and exploration of pathogenic factors
Study of ErbB4 as a marker of resistance to treatment and a molecular target for new therapeutic strategies in medulloblastoma
Study of the functional status of p53 in multiple myeloma and its impact on the therapeutic response and survival of patients
The pulmonary microbiome in idiopathic pulmonary fibrosis
Thoracic aortic aneurysms in Marfan syndrome: identification and validation of biomarkers to predict the risk of aortic rupture
Tracking and validation of mutations in the non-coding regions and spliceosome genes in acute myeloblastic leukemia (AML)

2016

Alpha-dystroglycanopathies: Pathophysiology, genetics and studies in animal models
Analysis of the myocardial-flow interaction in patients with hypertrophic myocardiopathy of genetic cause
Application of more sensitive techniques of genetic diagnosis, study of phenotypic modulators and prognosis in patients with myotonic dystrophies
Application of nanotechnology to the treatment of retinitis pigmentosa with anti-TNFa antibodies. Synergistic effect with antioxidants
Biomarkers and genes related to infantil bilateral striatal necrosis
Characterization of novel genes associated with Retinosis Pigmentosa (adRP) by whole exome sequencing (WES). Transcritome of retinal derived cells with a PRPF8 mutation
Clinical and molecular characterization on Rett syndrome: elucidate non solved cases
Cornelia de Lange Syndrome: development of diagnostic panels identification of patterns of gene expression and evaluation of endocrine axes in affected patients
Effect of telomeric regulation on pulmonary fibrosis
Enhancing diagnosis, prognosis and therapy of rare neurodegenerative diseases
ENiGMA: Advanced gene editing for Duchenne Muscular Dystrophy
Evaluation of the role of channels in inflammatory KCa3.1 complex induced Gaucher cells and development of bone complications in GD
Function of hypoxanthine-guanine phosphoribosyltransferase and hypoxanthine effect in the differentiation and maintenance of the neural system. Understanding the pathophysiology of Lesch Nyhan disease
Functional analysis of primary congenital glaucoma candidate genes in vitro and in a zebrafish model.Identification of new genes by exome sequencing
Gene editing as an alternative to retroviral vectors for gene therapy of Wiskott-Aldrich Syndrome
Genetic-molecular approach of mitochondrial diseases of the OXPHOS system: identification of phenotype conditioning factors
Genetic-molecular bases of pulmonary arterial hypertension and its phenotypic expression in the Spanish population
Genomic approaches for rare conditions: Inherited Retinal Dystrophies as a model
Genomic study of early-onset nephropathies
Genomics and integrative proteomics of myeloid malignancies and multiple myeloma: bioinformatic study of omic data from clinical samples to identify markers of prognosis, response and survival, and effective stratification of patients
Genomics, preclinical and clinical studies for a precision medicine in hereditary retinal dystrophies: Usher syndrome
Hereditary neuropathies in childhood and adolescence: genetic diagnosis and determinants of quality of life
Hypertrophic cardiomyopathy: mutational spectrum and functional characterization of new genes identified by exome sequencing
Identification of diagnostic biomarkers for amyotrophic lateral esclerosis
Identification of new antigens in patients with inflammatory myopathy
Identification of penetrance modifier genes in rare hereditary diseases through massive sequencing
Implementation of massive sequencing in the study of Congenital Myopathies and Congenital Myasthenic syndromes: A model of translational investigation in rare diseases
Imprinting disorders: low grade mosaicism or new candidate genes?
Influence of immunological and non-immunological factors in the pathogenesis of inflammatory myopathies
Kinetic modeling through Positron Emission Tomography (PET) with 18F-choline as a neuroimaging biomarker for diagnosis and prognosis in high-grade gliomas
Metabolism of tumor cells and AMPK. Achilles heel and new therapeutic target in cerebral astrocytomas
Molecular study and gene therapy treatment of Mucopolisaccharidosis type VII
Multicenter study of Staphylococcus aureus population structure and relationship with microbiome, cocolonización with P. aeruginosa and clinical situation in cystic fibrosis – ES
Muscle atrophy in aging and hereditary neurometabolic pathologies: approach to diagnosis and intervention
Neurotransmitter systems in paediatric encephalopathies of genetic origin: idenfication of new molecular pathophysiological aspects
New biomarkers in complement system mediated diseases
New generation strategies for the global molecular characterization of the multiple myeloma tumor clone: implications in clinical diagnosis and pathogenesis of the disease
New strategies to improve efficiency and reduce immunogenicity in gene therapy of inherited diseases
Optic glioma in NF1: genetic studies and exosomes analysis for the identification of susceptibility and prognosis biomarkers
Pathogenic mechanisms of IgG4 antibodies against neuronal cell-surface antigens in autoimmune encephalitis
PDGF as a new biomarker and therapeutic target in patients with muscular dystrophy
Phenotype and haplotypes associated with the intermediate alleles of the HTT gene responsible for Huntington’s disease
Preclinical evaluation of anti-myeloma drug resistance mechanisms (Proteasome and Immunomodulatory Inhibitors) and development of strategies to overcome it
Prevalence of sensitization to avian or fungal proteins in different work environments: workers of bird control companies, and workers in parks and gardens
Regenerative potential of the obestatin/GPR39 system on the treatment of pathologies characterized by muscle atrophy
Regulation of the microenvironment in multiple myeloma via microRNAs: role in the disease and therapeutic possibilities
Study of distal myopathies: diagnosis using NGS, expansion of studies on their natural history and exploration of pathogenic factors
The sulfonylurea receptor and ion channels Kir6.2 and TRPM4 as new pathophysiological factors involved in cerebral edema, hyperglycolysis and tumor proliferation in malignant brain gliomas
Ultra-sensitive evaluation of residual disease as a biomarker of curability in two models of multiple myeloma

2015

Advances Diagnostics in Distal Renal Tubular Acidosis (DRTA)
Alpha-dystroglycanopathies: Pathophysiology, genetics and studies in animal models
Alterations in immune response and hematopoietic development in Wolf-Hirschhorn syndrome: from the animal models to the patients (terminated)
Analysis of oxidative stress parameters, mitochondrial function, telomere length and profile of circulating miRNAs in patients with alpha-1 antitrypsin deficiency. Prognostic implications (terminated)
Anti-CCR9 antibodies for antitumor immunotherapy in patients with T-cell immunophenotype of acute lymphoblastic leukemia (T-ALL)
Antiphospholipid antibodies outside the Sidney consensus in patients with Primary and Expanded Antiphospholipid Syndrome with negative serology
Bioenergetics regulation as therapeutic target for adrenoleukodystrophy: dissection of E2F1/RIP140 pathways and protection of the mitochondria in the murine model (terminated)
Biological and radiological markers of cerebrovascular dysfunction in Cerebral Amyloid Angiopathy
Biomarkers and genes related to infantil bilateral striatal
Biomarkers study in the pathological continuum between Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD) (terminated)
Biomedicine systems to unravel the molecular basis and model hereditary spastic paraplegia (terminated)
Biotensegrity study in neuroblastoma
Breaking traffic pump copper ATP7B in hepatocytes and variations in Wilson’s disease and idiopathic cuprotoxicosis (terminated)
Capacity of IgG4 in fixed esophageal tissues for the identification of foods responsible for eosinophilic esophagitis in adult patients
Cell stress and mislocalization of transcription factors in ALS pathophysiology (terminated)
Cerebral functional connectivity in alternative circuitry to food motivation network in adult patients with Prader-Willi syndrome (terminated)
Characterization of novel genes associated with Retinosis Pigmentosa (adRP) by whole exome sequencing (WES). Transcritome of retinal derived cells with a PRPF8 mutation
Clinical and molecular characterization on Rett syndrome: elucidate non solved cases
Clinical and radiological quantitative evaluation in PMM2-CDG patients through a national network of professionals
Clinical characterization and molecular genetic analysis of the BAF complex related syndromes
Clinical characterization and molecular genetic analysis of the BAF complex related syndromes
Clinical phenotypes and new physiopathological biomarkers, diagnoses and prognoses in early-onset Alzheimer’s disease and behavioral variant of frontotemporal dementia
Clinical, anatomopathological, molecular and genetic characterization of arrhythmogenic cardiomyopathy: differences between the classical form (right) and the left (terminated)
Clinical-Genetic correlations in inherited dementias and in cognitively preserved nonagenarians
Contribution of mutations in X linked genes versus mutations in autosomes in pairs of brothers with intellectual disabilities without etiology, and no other family history. Study by Next Generation Sequencing
Cornelia de Lange Syndrome: development of diagnostic panels, identification of patterns of gene expression and evaluation of endocrine axes in affected patients
Cystic Fibrosis as a model for the application of advanced therapies to the treatment of rare diseases (terminated)
Development of new therapeutic strategies for the treatment of Spinal Muscular Atrophy: regulation of autophagy and intracellular signaling pathways
Discovery and characterization of small-molecule activators of the tumor suppressor protein PP2A for the treatment of acute myeloid leukemia
DNA sequencing (NGS) to study the genetic causes of auditory neuropathies and other autosomal recessive non-syndromic deafness
Early preganncy loss: genetic causes and recurrence risk
Enhancing diagnosis, prognosis and therapy of rare neurodegenerative diseases
ENiGMA: Advanced gene editing for Duchenne Muscular Dystrophy
Etiology of neural tube defects: possible implication of the non-canonical Wnt signalling pathway in the incidence of lipomyelomeningocele in humans
Evaluation of calcium-sensing receptor and parathyroid hormone-related protein as new therapeutic targets in neuroblastoma
Ewing’s sarcoma model: induction of t(11;22) translocation in mesenchymal and human iPS cells by the CRISPR-Cas9 system, role of the cellular context and other secondary events
Exosomal mRNA and microRNAs ultra-sequencing in patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis caused by identified mutations in CLDN19 gene
Familial adenomatous polyposis of unknown origin: Identification of new genes predisposing to colorectal cancer by exome sequencing
Function of hypoxanthine-guanine phosphoribosyltransferase and hypoxanthine effect in the differentiation and maintenance of the neural system
Functional analysis of primary congenital glaucoma candidate genes in vitro and in a zebrafish model.Identification of new genes by exome sequencing
Gene editing as an alternative to retroviral vectors for gene therapy of Wiskott-Aldrich Syndrome
Genetic and molecular study of hereditary renal tubulopathies
Genetic and pharmacogenomic diagnosis of mitochondrial diseases by massive sequencing and functional complementation
Genetic characterization and identification of new target genes for hte diagnosis of unclassified congenital anemias
Genetic-molecular bases of spinocerebellar ataxias: identification of causal deficits, biomarkers and therapeutic targets
Genomic and cellular simulation of infant acute lymphoblastic leukemia with MLLAF4-rearrangement
Genomic approach for the identification of new genes and functional modules responsible for severe intellectual disability
Genomic approaches for rare conditions: Inherited Retinal Dystrophies as a model
Heterogeneity of aortic involvement in Marfan syndrome: Aortic biomechanics, biomarkers and genetic determinants
Human and murine study of the clinical, electrophysiological and histological characteristics of cardiomyopathy due to mutations in TMEM43
Identification of diagnostic biomarkers for amyotrophic lateral esclerosis
Identification of genetic variants causing/modulating the clinical phenotype in primary immunodeficiencies and with dysregulation. Application of NGS
Identification of new causative genes of Dravet syndrome and related spectrum of infantile febrile epileptic encephalopathies
Identification of penetrance modifier genes in rare hereditary diseases through massive sequencing
Impact of Next Generation Sequencing (NGS) for molecular diagnosis in a series of patients affected by genetically unresolved myopathies
Implementation of massive sequencing in the study of Congenital Myopathies and Congenital Myasthenic syndromes: A model of translational investigation in rare diseases
Implication of the epigenetic regulators BRD4, EZH2 and ASXL1 in acute myeloid leukemia
Incidence of diabetes and prevalence of monogenic diabetes at the di@bet.es study
Individual differences in the longitudinal changes in the functional and structural connectivity in pre-symptomatic Huntington’s disease patientes
Interaction of miRNA-200 and miRNA-138 in infiltration and profiles of Glioblastoma Multiforme MMMI primary. Utility as biomarkers in the diagnosis, prognosis and therapeutic (terminated)
Investigation of PTEN hamartoma tumor syndrome. Phenotypic spectrum, associated cancers, known molecular bases and search for new genes
Involvement of microRNAs in regulating SERPINA1 gene and its role in alpha-1 antitrypsin deficiency and related lung diseases (terminated)
lnherited syndromes in unexplained sudden cardiac death: Genetic investigation.
McArdle disease (GSDV): Novel diagnostic, pathophysiologic and therapeutic approaches (terminated)
Mechanisms of disease in arrhythmogenic myocardiopathy, improvements in its diagnosis and search for therapeutic targets
Metabolomic study in acute intermittent porphyria patients: characterization of the hormonal and catabolic imbalances associated with the disease and effects of hemin treatment
MicroRNA-based nanotherapy: New treatment for pediatric tumors of the nervous system (terminated)
Mitochondrial encephalomyopathies and secondary coenzyme Q10 deficiencies: Study in pediatric patients, in cellular and murine models (terminated)
Molecular mechanisms of secondary CoQ deficiency associated with defects of oxidative phosphorylation (terminated)
Molecular study and gene therapy treatment of Mucopolisaccharidosis type VII
Mortality attributable to rare diseases in Spain, 1981-2010. Interactive information system of temporal and geographical variability
Multicenter study of Staphylococcus aureus population structure and relationship with microbiome, cocolonización with P. aeruginosa and clinical situation in cystic fibrosis
Multitarget chiral compounds for the treatment of neurodegenerative diseases: nicotinic ACh receptors ligands, Nrf2 inducers and antiinflammatory efect
Neurotransmitter systems in paediatric encephalopathies of genetic origin: idenfication of new molecular pathophysiological aspects
New generation sequencing versus high-sensitivity flow cytometry for the detection of residual disease in childhood and adult with acute lymphoblastic leukemia
New mutations in the mitocondrial DNA associated to diseases: characterization in transmitochondrial cybrids differentiated to neurons and myocites (terminated)
New strategies to improve efficiency and reduce immunogenicity in gene therapy of inherited diseases
New syndromes, antigens, and mechanisms of synaptic autoimmunity
New therapeutic targets in Ewing sarcoma through the study of the tumor microenvironment (terminated)
NK cells anti-tumor activity mediated by lipid exchange. Potential therapeutic use after haemopoietic transplantation in multiple myeloma (terminated)
Optic glioma in NF1: genetic studies and exosomes analysis for the identification of susceptibility and prognosis biomarkers
Pathogenic mechanisms of IgG4 antibodies against neuronal cell-surface antigens in autoimmune encephalitis
Peripheral nerve tumors in Neurofibromatosis 1: susceptibility, origin, progression and malignancy (terminated)
Pharmacological modulation of ryanodine receptor in Duchenne and Becker muscular dystrophies
Phenotypic and genotypic characterization of hypohidrotic ectodermal dysplasia in Spanish population (terminated)
Prognostic profiles in endocrine tumors identified by massive sequencing platforms and definition of markers for clinical use
PSGL-1/P-Selectin interaction: homeostasis of the immune, vascular and reproductive system in mice. Relevance in the development of pulmonary arterial hypertension and autoimmune diseases in humans
Risk factors for sudden death in adults with congenital heart disease. Implications for the implantation of cardioverter-defibrillators (terminated)
Role of LINE-1 retrotransposition in DNA-repair associated human diseases
Role of the signaling pathway NOTCH1 / FBXW7 / PI3K / PTEN / AKT in the progression of Chronic Lymphocytic Leukemia B (CLL-B) to advanced forms
Searching and characterization of biomarkers of mitochondrial diseases associated with enzymatic deficits of the OXPHOS system
Standardization of the diagnosis of early malignant transformation in neurofibromas of NF1 patients including MRI, PET/CT and Pathology (terminated)
Study of bone microarchitecture and re-sistance and their predictors in patients with Cushing’s syndrome and acromegaly in remission. A model to investigate the interaction between bone and body fat
Study of brain activity and connectivity in Social Anxiety Disorder: search for new endophenotypes through comparison with Williams-Beuren syndrome. TASWI study
Study of the genetic susceptibility in the unexplained adenomatous polyposis
Study of the Janus kinase-2/STAT3 pathway as a pharmacological target in idiopathic pulmonary fibrosis and associated pulmonary hypertension: preclinical and translational analysis
Study of the macrophage polarization in interstitial lung diseases. Searching for biomarkers and implementation of a new animal model (terminated)
Study of the regenerative potential of patient-specific iPS-derived muscle progenitor cells in Limb Girdle Muscular Dystrophy type 2A. Study performed in an in vitro model and in a murine model of tissue injury (terminated)
Study of the role of survivin in the pathogenesis of pulmonary arterial hypertension and its use as a potential therapeutic target
Sub-clonal genetic changes in myelodysplastic syndromes (MDS) 5q- patients treated with lenalidomide (terminated)
Targeted therapy of Auristatin E or Ara-C to acute myeloid leukemia cells that express CXCR4, a receptor involved in stromal adhesion and chemoresistance
The oncogenic role of embryonic pathways (Notch, Hedgehog and Wnt) in rhabdomyosarcoma: expanding the knowledge to discover new therapeutic targets
The role of epigenetics in neuroblastoma pathogenesis: new molecular insights for the development of therapeutic strategies (terminated)
The role of IL-33/ST2 axis in diagnosis, prognosis and treatment of Acute Respiratory Distress Syndrome
Therapeutic strategies against the toxicity produced by peptides and RNA encoded by the mutant allele of HTT in Huntington’s disease
Training as modulator inducer of myokines and neurotrophins in mitochondrial diseases: a therapeutic strategy
Use of circulating extracellular microvesicles content in peripheral blood for the diagnosis, stratification and follow-up of patients with high-grade gliomas (terminated)

2014

Advances Diagnostics Distal Renal Tubular Acidosis (DRTA)
Advances in McArdle disease: New therapeutic approaches and development of a new non-invasive diagnostic method in patients
Alterations in immune response and hematopoietic development in Wolf-Hirschhorn syndrome: from the animal models to the patients
Alzheimer’s disease and Down syndrome. Multimodal cerebrospinal fluid, magnetic resonance imaging and amyloid PET studies
An assesment of endometrial cancer risk markers in Lynch syndrome patients
Analysis of microRNAs in patients and in murine models of retinitis pigmentosa: novel therapeuthic targets
Analysis of oxidative stress parameters, mitochondrial function, telomere length and profile of circulating miRNAs in patients with alpha-1 antitrypsin
Assessment of molecular clonal evolution by next generation sequencing in JAKV617F-positive myeloproliferative neoplasms and correlation with JAK2V617F mutant allele load
Bioenergetics regulation as therapeutic target for adrenoleukodystrophy: dissection of E2F1/RIP140 pathways and protection of the mitochondria in the murine model
Biological and radiological markers of cerebrovascular dysfunction in Cerebral Amyloid Angiopathy.
Biomarkers study in the pathological continuum between Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD)
Biotensegrity study in neuroblastoma.
Breaking traffic pump copper ATP7B in hepatocytes and variations in Wilson’s disease and idiopathic cuprotoxicosis.
Cell stress and mislocalization of transcription factors in ALS pathophysiology.
Cellular therapy of retinal pigment epithelium in hereditary retinal dystrophies
Cerebral functional connectivity in alternative circuitry to food motivation network in adult patients with Prader-Willi syndrome.
Clinical and pre-clinical investigation of neuromuscular diseases through computerized image analysis
Clinical-Genetic correlations in inherited dementias and in cognitively preserved nonagenarians.
Contribution of mutations in X linked genes versus mutations in autosomes in pairs of brothers with intellectual disabilities without etiology, and no other family history. Study by Next Generation Sequencing.
Cost and Burden of hereditary angioedema in Spain
Cystic and glomerular inherited kidney diseases: panel-based next-generation sequencing to improve diagnosis and exome sequencing to identify novel genes
Cystic Fibrosis as a model for the application of advanced therapies to the treatment of rare diseases.
Development of new therapeutic strategies for the treatment of Spinal Muscular Atrophy: regulation of autophagy and intracellular signaling pathways.
Development of personalized therapeutic strategies for malignant peripheral nerve sheath tumors: in vivo models and pharmacogenomics
Development of pharmacological therapies for myotonic dystrophy
Drugs as risk factors for sudden unexplained cardiac death. Cases and controls study
Early preganncy loss: genetic causes and recurrence risk
Etiology of neural tube defects: possible implication of the non-canonical Wnt signalling pathway in the incidence of lipomyelomeningocele in humans.
Exosomal mRNA and microRNAs ultra-sequencing in patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis caused by identified mutations in CLDN19 gene.
Functional and anatomical preservation of Melatonin and Epigallocatechin Gallate on retinal neurodegenerative models
Genetic diagnosis of hereditary cardiomyopathies by new generation sequencing. Detection and prioritization tools for causal variants
Heterogeneity of aortic involvement in Marfan syndrome. Aortic biomechanics, biomarkers and genetic determinants.
Identification of new causative genes of Dravet syndrome and related spectrum of infantile febrile epileptic encephalopathies.
Identification of new genes and molecular mechanisms of Usher syndrome and its translation to the diagnosis
Identification of new genes responsible for Hirschsprung disease and for thyroid cancer, and elucidation of the associated pathogenic mechanisms
Identification of new molecular mechanisms in Retinal Dystrophies, translation to diagnosis and development of new gene and cell therapies
Impact of Next Generation Sequencing (NGS) for molecular diagnosis in a series of patients affected by genetically unresolved myopathies.
In vitro analysis of the protein turnover in muscle of patients with limb girdle muscular dystrophy type 2A
Inherited syndromes in unexplained sudden cardiac death-genetic investigation.
Interaction of miRNA-200 and miRNA-138 in infiltration and profiles of Glioblastoma Multiforme MMMI primary. Utility as biomarkers in the diagnosis, prognosis and therapeutic.
Intrathecal administration of expanded autologous stromal cells with pauta 100/3 in chronically established spinal cord injury.
Intratumoral heterogeneity in glioblastoma. Therapeutic implications
Investigation of RNA splicing and its regulation in multiple myeloma
Involvement of microRNAs in regulating SERPINA1 gene and its role in alpha-1 antitrypsin deficiency and related lung diseases
Living whit Lynch Syndrome: Self-concept, personal identity and adaptation to the generic diagnosis
McArdle disease (gsdv): novel diagnostic, pathophysiologic and therapeutic approaches.
MicroRNA-based nanotherapy: New treatment for pediatric tumors of the nervous system
Mitochondrial diseases: new study strategies, progress in diagnosis and approach to therapy
Mitochondrial encephalomyopathies and secondary coenzyme Q10 deficiencies: Study in pediatric patients, in cellular and murine models.
Modeling the impact of telomerase in dyskeratosis congenita: New therapeutic targets and treatments
Molecuar mechanisms and modulation of mitophagy and mitocondrial biogenesis in cellular models of MELAS disease
Molecular basis of aggressive pituitary tumors and search for new therapeutic targets
Molecular Diagnostics by massive sequencing (NGS) of genetic eye diseases: retinal dystrophies (DR) and glaucoma. Expression of new variants associated with DR
Multitarget chiral compounds for the treatment of neurodegenerative diseases: nicotinic ACh receptors ligands, Nrf2 inducers and antiinflammatory efect.
Mutations in protein O-glucosyltransferase 1 (GLUT1) cause a new type of muscular dystrophy associated with hypoglycosylation of Notch and reduction of alpha-dystroglycan expression
New antigenic reactivities and studies of innate immunity in autoimmune neuromuscular diseases (IMMUN-ENM)
New genetic mechanisms involved in imprinting disorders
New mutations in the mitochondrial DNA associated to diseases: characterization in transmitochondrial cybrids differentiated to neurons and myocites.
New strategies against the multiresistant pathogen Acinetobacter baumannii: siRNA silencing in bacteria and development of new inhibitors. Evaluation in pre-clinical studies.
New therapeutic strategies for diffuse intrinsic pontine gliomas and pediatric high grade gliomas
New therapeutic targets in Ewing sarcoma through the study of the tumor microenvironment.
Optimization of alveolar type II cell transplantation for the treatment of idiopathic pulmonary fibrosis (terminated)
Peripheral nerve tumors in Neurofibromatosis 1: susceptibility, origin, progression and malignancy.
Pharmacological modulation of ryanodine receptor in Duchenne and Becker muscular dystrophies.
Phenotypic and functional characterization of circulating tissue macrophages: new strategy for early diagnosis and disease monitoring (terminated)
Phenotypic and genotypic characterization of hypohidrotic ectodermal dysplasia in Spanish population
Phenotypic and molecular characterization of primary amyloidosis: implications in the clinical manifestations and prognosis of the disease
Preclinical development of humanized monoclonal antibodies for the treatment of infections caused by Acientobacter baumannii.
Pulmonary fibrosis and hypersensitivity pneumonitis due to exposure to antigens in feathers duvets / pillows (terminated)
Regulation of STEP by BDNF: Therapeutic implications in neurological diseases
Regulation of the autophagic flux in Glioblastoma: towards the identification of novel therapeutical strategies
Resectable Glioblastoma Multiforme: Impact in incorporating advanced funcional imaging procedures (RMs; RM-PWI, RM-DWI and PET- Fluorocholine) and genomic Profile in survival
Risk Factors for Sudden Death in Adults with Congenital Heart Disease. Implications for Automatic Defibrillator Implantation.
Role of collagen VI and biglycan in muscle cell homeostasis: Regulation of muscle cell size and metabolism. Implications for muscular dystrophies
Role of LINE-1 retrotransposition in DNA-repair associated human diseases.
Standardization of the diagnosis of early malignant transformation in neurofibromas of NF1 patients including MRI, PET/CT and Pathology.
Study of gliomas: analysis of large-scale sequencing, molecular techniques, imaging and clinical data analysis. Generation of a diagnostic platform
Study of HLA-DR/DQ haplotypes in sporadic and familial forms of autoimmune MG. Analysis of their role as genetic factor of susceptibility and modifier of the phenotype in a Spanish population
Study of new therapeutic targets in pulmonary hypertension. Contribution of the TSP1 / CD47 nexus in the structural and functional properties of the pulmonary artery in mouse models (terminated)
Study of pathways involved in autism spectrum disorders: functional consequences of genetic and epigenetic variants
Study of the genetic susceptibility in the unexplained adenomatous polyposis.
Study of the regenerative potential of patient-specific iPS-derived muscle progenitor cells in Limb Girdle Muscular Dystrophy type 2A. Study performed in an in vitro model and in a murine model of tissue injury.
Study of the role of Fra-1 and Fra-2 in the pathogenesis and therapeutic response of gliomas (terminated)
Sub-clonal genetic changes in myelodysplastic syndromes (MDS) 5q- patients treated with lenalidomide.
Systems biomedicine for unraveling the molecular basis and modeling inherited spastic paraplegias.
The oncogenic role of embryonic pathways (Notch, Hedgehog and Wnt) in rhabdomyosarcoma: expanding the knowledge to discover new therapeutic targets.
The role of DNA (hydroxy)methylation in the regulation in the regulation of long non-coding RNAs in Multiple Myeloma
The role of epigenetics in neuroblastoma pathogenesis: new molecular insights for the development of therapeutic strategies.
The study of clinical phenotypes and their association with biological distinct pathways in a sample of 200 patients with Autism Spectrum Disorders.
Therapeutic potential of estrogens in Duchenne’s disease: effects and mechanisms of action on satellite cells and macrophages (terminated)
Whole exome sequencing for the study of 30 children with developmental delay or moderate to severe

2013

Advances in McArdle disease: New therapeutic approaches and development of a new non-invasive diagnostic method in patients
Alterations in immune response and hematopoietic development in Wolf-Hirschhorn syndrome: from the animal models to the patients
Alzheimer’s disease and Down syndrome. Multimodal cerebrospinal fluid, magnetic resonance imaging and amyloid PET studies
An assessment of endometrial cancer risk markers in Lynch syndrome patients
Analysis of microRNAs in patients and in murine models of retinitis pigmentosa: novel therapeutic targets
Animal model generation and gene therapy for OXPHOS diseases (terminated)
Antibodies against neuronal membrane antigens in the opsoclonus-myoclonus syndrome, neuromyotonia and epileptic syndromes probably immune mediated (terminated)
Assessment of molecular clonal evolution by next generation sequencing in JAKV617F-positive myeloproliferative neoplasms and correlation with JAK2V617F mutant allele load
Cardiac involvement in primary amyloidosis: study of serum biomarkers, 3-Tesla magnetic resonance imaging, and genomic characterization of amyloidogenic light chains (terminated)
Clinical and pre-clinical investigation of neuromuscular diseases through computerized image analysis
Costs and Burden of Disease study of hereditary angioedema in Spain
Cystic and glomerular inherited kidney diseases: panel-based next-generation sequencing to improve diagnosis and exome sequencing to identify novel genes
Development of pharmacological therapies for myotonic dystrophy
Effect of HIF modulation on the retinal degeneration of retinitis pigmentosa (terminated)
Functional and anatomical preservation of Melatonin and Epigallocatechin Gallate on retinal neurodegenerative models
Identification and characterization of microRNAs involved in the pathogenesis of autoimmune thyroid diseases
Identification of common genetic alterations (other than NF2 inactivation) in meningiomas and schwannomas derived from patients with NF2 and from sporadic cases
Identification of new genes and molecular mechanisms of Usher syndrome and its translation to the diagnosis
Identification of new genes responsible for Hirschsprung disease and for thyroid cancer, and elucidation of the associated pathogenic mechanisms
In vitro analysis of the protein turnover in muscle of patients with limb girdle muscular dystrophy type 2A
Intratumoral heterogeneity in glioblastoma. Therapeutic implications
Investigation of RNA splicing and its regulation in multiple myeloma
Involvement of ICOS and PI3K isoforms in autoimmune inflammatory diseases. Development of new therapies
Living whit Lynch Syndrome: Self-concept, personal identity and adaptation to the generic diagnosis
McArdle disease: in-depth phenotype assessment of all Spanish patients and novel therapeutic approaches in patients and in a murine model (‘knock-in’ mouse)
Modeling the impact of telomerase in dyskeratosis congenita: New therapeutic targets and treatments
Molecular diagnostics by massive sequencing (NGS) of genetic eye diseases: retinal dystrophies (DR) and glaucoma. Expression of new variants associated with DR
Molecular mechanisms and modulation of mitophagy and mitochondrial biogenesis in cellular models of MELAS disease
Mutation detection in genes associted with Retinitis Pigmentosa by Next generation sequencing (NGS). In vitro expession of mutant gene in human retinal cells (terminated)
New antigenic reactivities and studies of innate immunity in autoimmune neuromuscular diseases (IMMUN-ENM)
New genetic mechanisms involved in imprinting disorders
New therapeutic strategies for diffuse intrinsic pontine gliomas and pediatric high grade gliomas
Pathophysiology and genetics of diseases associated with dystroglycan and its O-glycosylation
Pharmacological modulation of ryanodine receptor in Duchenne and Becker muscular dystrophies
Pharmacological modulation of the phosphatase enzyme PP2A as a therapeutic alternative for the treatment of neurodegenerative diseases and brain ischemia
Pluripotent Stem Cells for modeling Charcot-Marie-Tooth disease (terminated)
Progressive Familial Intrahepatic cholestasis type 3: Pharmacological therapy for specific mutations in ABCB4 and identification of new disease-causing genes (terminated)
Regulation of the autophagic flux in Glioblastoma: towards the identification of novel therapeutical strategies
Research of the chromosomal copy number variations and search of new candidate loci in the Familial Colorectal Cancer Type X and in other types of colorectal cancer
Resectable Glioblastoma Multiforme: Impact in incorporating advanced functional imaging procedures (RMs; RM-PWI, RM-DWI and PET- Fluorocholine) and genomic Profile in survival
Role of (hydroxy)methylation of DNA in the regulation of long non-coding RNAs in Multiple Myeloma
Role of collagen VI and biglycan in muscle cell homeostasis: Regulation of muscle cell size and metabolism. Implications for muscular dystrophies
Spanish Neuromuscular Disease Database Project
Study of HLA-DR/DQ haplotypes in sporadic and familial forms of autoimmune MG. Analysis of their role as genetic factor of susceptibility and modifier of the phenotype in a Spanish population
Study of pathways involved in autism spectrum disorders: functional consequences of genetic and epigenetic variants
Testing the idoneity of new genomic analysis techniques for the identification of novel genetic determinants of idiopathic GH deficiency and primary IGF-I deficiency in short stature
The role of autophagy and its modulation in fibroblasts from patients with Amyotrophic Lateral Sclerosis and in the NSC-34 cellular model, in a context of normoglycemia or hyperglycemia (terminated)
Therapeutic potential of estrogen in Duchenne disease: effects and mechanisms of action on the satellite cells and macrophages
Therapy approaches for the treatment of mitochondrial DNA depletion syndrome (terminated)
Translational research in neuromuscular disorders: advanced dystrophin quantification for streamlined screening of RNA treatments
Translational research in neuromuscular disorders: advanced dystrophin quantification for streamlined screening of RNA treatments
Traslational Research and disease mechanisms in hereditary peripheral neuropathies (terminated)
Whole exome sequencing for the study of 30 children with developmental delay or moderate to severe

2012

A study of mitochondrial dysfunction in FXTAS patients: searching for a specific presymptomatic diagnostic and prognostic marker in FXTAS (terminated)
Animal model generation and gene therapy for OXPHOS diseases
Antibodies against neuronal membrane antigens in the opsoclonus-myoclonus syndrome, neuromyotonia and epileptic syndromes probably immune mediated
Application of new technologies in characterizing ciliopathies: Bardet-Biedl and Alström syndromes (terminated)
Application of the optic nerve hemoglobin assesment: ischemic optic neuritis and function-morphology relation in glaucoma (coordinated)
Axonal pathophysiology in Friedreich Ataxia: axonal transport and degeneration (terminated)
Biochemical and genetic characterization of new patients and types of Congenital Disorders of Glycosylation (CDG). Searching new therapeutic targets (terminated)
Cardiac involvement in primary amyloidosis: study of serum biomarkers, 3-Tesla magnetic resonance imaging, and genomic characterization of amyloidogenic light chains
Clinical and etiological research on congenital atypical craniofacial clefts (CACFC)
Clinical utility of the oxidative stress profile and the expression of miRNAs, in blood and exhaled breath condensate in patients with alpha-1 antitrypsin deficiency (terminated)
Clinical, neuroanatomical and functional study with neuroimaging techniques in Down Syndrome population with and without dementia: predictive patterns for the development of dementia
CoQ10 deficiency syndrome: understanding the genotype-phenotype association and metabolic dysfunction through the generation of iPSCs from patient-specific genetically-corrected cells
Diagnostic potential and reliability of array-CGH technique in chorionic villi samplings. Detection of cryptic chromosome abnormalities and possible fetoplacental discrepancies (terminated)
Drug Repositioning for Rare Disease
DRUGS4RARE: Drug Repositioning for Rare Disease (terminated)
Effect of HIF modulation on the retinal degeneration of retinitis pigmentosa
Effects of neuroinflammation on the activation of the UPR, ERAD and Akt/GSK3/b-catenin pathways in response to proteasome inhibition. Relationship to hippocampal neurodegeneration
Etiology of cardiopathy in acromegaly and its relation to body composition (terminated)
Exome sequencing for molecular analysis of early epileptic encephalopathies
FOXC1, FOXC2 y PITX2 gene mutations in primary congenital glaucoma. Identification of new genes by exome sequencing and study of the genotype-phenotype relationship (terminated)
Genetic basis of the immunodermatology disorders familial hidradenitis suppurativa and SAPHO syndrome
Genomic analysis of Neurofibromatosis type 1 associated tumors: identification of genes involved in tumor predisposition and progression (terminated)
High precission radiosurgical treatment in temporal lobe epilepsy
Identification and validation of biomarkers for mitochondrial respiratory chain disorders (terminated)
Identification, characterization and clinical relevance of molecular defects in the Complement factor H/CFHR protein family in renal patholog
Immunogenetic profiles in hemophagocytic lymphohistiocytosis (HLH) for a rapid diagnosis of the familiar forms (FHL) of the disease
Improvement of neural regeneration using biodegradable scaffolds and stem cells during open fetal surgical repair of myelomeningocele in a teratogenic model
LINE-1 activity in Fanconi Anemia Patients: looking for new partners and establishment of an iPSC based disease model (terminated)
Long-term morbi-mortality due to hepatic disorders and DILI susceptibility in patients with a previous DILI episode
Massive sequencing applied to autosomal recessive and X-linked non-syndromic hearing impairment: identification of novel genes, and development and validation of a diagnostic panel (terminated)
McArdle disease: in-depth phenotype assessment of all Spanish patients and novel therapeutic approaches in patients and in a murine model (‘knock-in’ mouse)
Mesenchymal stromal cells as a tool for the treatment of inflammatory/autoimmune diseases: Role of transforming growth factor (TGF)-beta
Mitochondrial alterations in cell models of Parkinson disease (LRRK2 and Parkin): Therapeutic potential of mitochondrial function modulators (terminated)
Mitochondrial DNA mutations contribute to autism and also to the characteristics of mitochondrial disorders present in patients with autism spectrum disorders
Mitochondrial medicine: delineating a strategy for molecular-genetics identification of oxphos patients; part 1 i+12
Mitochondrial medicine: delineating a strategy for molecular-genetics identification of oxphos patients; part 2 vhir
Mutation detection in genes associated with Retinitis Pigmentosa by Next generation sequencing (NGS). In vitro expression of mutant gene in human retinal cells
Mutational studies in series of patients with distal hereditary motor neuropathy
New insights in Fabry disease: molecular mechanisms involved in the pathology and cloning of biological tools for treatment of the pathology (terminated)
Pathophysiology and genetics of diseases associated with dystroglycan and it’s O-glycosylation
Phenotypic and molecular study of thyroid tumors in the PTEN hamartoma tumor syndrome
Pluripotent Stem Cells for modeling Charcot-Marie-Tooth disease
Progressive Familial Intrahepatic cholestasis type 3: Pharmacological therapy for specific mutations in ABCB4 and identification of new disease-causing genes
Role of genetic sequences in postnatal persistence of fetal hemoglobin: Phenotype modulators in hemoglobinopathies
Role of miRNAs as biomarkers for early diagnosis in hereditary breast cancer. Expression profiling of tumors, blood and serum (terminated)
SCA36: Analysis of the origin and molecular dynamics of the NOP56 intronic expansion, its influence on gene expression and on the phenotype
SPANISH HUMAN PROTEOME PROJECT OF CHROMOSOME 16: Rheumalogic Application
Spanish Rare Disease Registries Research Network (website)
Structural molecular basis of the kidney dense deposit disease (DDD) associated with C3 polymorphisms and therapeutic opportunities
Study of genetic markers in patients with Henoch-Schöenlein purpura
Study of miRNAs in Friedreich’s ataxia patients. Diagnostic and therapeutic implications
Study on cell mediated immunity diagnosis of pediatric patients with suspected combined immunodeficiency (IDC) process (terminated)
Study on the initial neural affectations in foetal/neonatal hydrocephalus. Prognosis and therapeutic approaches
Tackling teenage: adaptation of a training program on psychosexual development in ASD adolescents
Testing the idoneity of new genomic analysis techniques for the identification of novel genetic determinants of idiopathic GH deficiency and primary IGF-I deficiency in short stature
The Molecular Basis for Neurodegeneration and Muscle Atrophy in ALS
The role of autophagy and its modulation in fibroblasts from patients with Amyotrophic Lateral Sclerosis and in the NSC-34 cellular model, in a context of normoglycemia or hyperglycemia
Therapy approaches for the treatment of mitochondrial DNA depletion syndrome
Translational development for detection of aneuploidies through massive parallel sequencing of cell free fetal DNA in maternal plasma
Translational Research and disease mechanisms in hereditary peripheral neuropathies
Translational research in neuromuscular disorders: advanced dystrophin quantification for streamlined screening of RNA treatments
Translational Research, Experimental Medicine and Therapeutics on Charcot-Marie-Tooth (website)
TREAT-CMT: Traslational Research, Experimental Medicine and Therapeutics of Charcot-Marie-Tooth Disease – WP1: Natural history, phenotyping and clinical research tools (terminated)
TREAT-CMT: Traslational Research, Experimental Medicine and Therapeutics of Charcot-Marie-Tooth Disease – WP2: Translational genomics and identification of biomarkers for the diagnosis of CMT neuropathy (terminated)
TREAT-CMT: Traslational Research, Experimental Medicine and Therapeutics of Charcot-Marie-Tooth Disease – WP3: Cellular routes, physiopathology and therapeutics of CMT neuropathy associated with mitochondria (terminated)
Usefulness of cerebral flow perfusion maps generated by arterial spin labeling in patients with refractory epilepsy

2011

A study of mitochondrial dysfunction in FXTAS patients: searching for a specific presymptomatic diagnostic and prognostic marker in FXTAS
Analysis of motoneuron degeneration in a cellular model of Spinal Muscular Atrophy
Analysis of splicing regulatory sequences (enhancers and silencers) of BRCA1 and BRCA2 by hybrid minigenes: aberrant splicing and breast/ovarian cancer. Global analysis of splicing patterns in BRCA-negative patients (terminated)
Application of new technologies in characterizing ciliopathies: Bardet-Biedl and Alström syndromes
Approaching new fetal genetic diagnosis in maternal blood
Arteriovenous malformations in patients with Hereditary Hemorrhagic Telangiectasia. Accuracy of different diagnostic techniques
Autosomal dominant non-syndromic sensorineural hearing loss: Extension of the molecular-genetic diagnostic by applying novel technologies, functional studies and generation of mouse models
Axonal pathophysiology of Friedreich’s ataxia: axonal transport and degeneration
Biochemical and genetic characterization of new patients and types of Congenital Disorders of Glycosylation (CDG)
Biochemical and genetic characterization of new patients and types of Congenital Disorders of Glycosylation (CDG). Searching new therapeutic targets
Characterization of a new neurodegenerative syndrome linked to R265X mutation in the seipin gene (terminated)
Clinical utility of the oxidative stress profile and the expression of miRNAs, in blood and exhaled breath condensate in patients with deficiency of alpha-1 antitrypsin
Congenital Myopathies: A study of the signaling pathways & molecular mechanisms involved in its pathogenesis (terminated)
Development of a new strategy for the genetic diagnosis of mitochondrial diseases that are caused by nuclear genes (terminated)
Development of innovative Gene Therapy approaches for rare skin disorders
Development of Molecular Diagnosis Panels for Hereditary Monogenic Pathology using Fluidigm Access Array System and Next Generation Sequencing GS Junior System
Etiology of cardiopathy in acromegaly and its relation to body composition
FOXC1, FOXC2 y PITX2 gene mutations in primary congenital glaucoma. Identification of new genes by exome sequencing and study of the genotype-phenotype relationship
From channel to clinical arrhythmias. Clinical, genetical and functional study of channelopathies
Genetic and epigenetic integrated study of sudden cardiac death
Genetic basis of the immunodermatology disorders familial hidradenitis suppurativa and SAPHO syndrome
Genomic analysis of Neurofibromatosis type 1 associated tumors: identification of genes involved in tumor predisposition and progression
Genomics Analysis in Overgrowth Syndromes: evaluation of genomic dosage through customized oligo/SNP arrays and study of candidate genes using NGS
Geographical variations in the prevalence of congenital anomalies: environmental and socioeconomic factors (terminated)
GWAS, GWES & GWLA to characterize susceptibility loci for Hirschsprung disease and thyroid cancer (terminated)
Hereditary Breast and Ovarian Cancer Syndrome: in vitro study of unknown significant BRCA1 and BRCA2 variants and search for new genes responsible for this syndrome (terminated)
Hereditary pyruvate kinase deficiency. Effect of erythropoiesis versus apoptosis balance on the severity of the Haemolytic Syndrome (terminated)
Identification and validation of biomarkers for mitochondrial respiratory chain disorders
Identification of new genes responsible for Inherited Retinal Dystrophies and elucidation of the associated pathogenicity mechanisms
Identification of the molecular mechanisms that modify the cystic fibrosis phenotype using high-throughput sequence analysis of the exome and transcriptome
Idiopathic cardioskeletal myopathies: a clinical, pathological and genetic study
Impact of oxidative stress in mitochondrial biogenesis, energy homeostasis and proteolysis and its regulation: therapeutic implications for adrenoleukodystrophy
Induction of factor VIII by mesenchimal stem cells transplant in a murine model of hemophilia A (terminated)
Inorganic Polyphosphate as a physiological regulator of von Willebrand Factor, and its role in different subtypes of von Willebrand Disease (terminated)
Lentiviral vectors for the development of gene therapy protocols for Ataxia-teleangiectasia (terminated)
LINE-1 activity in Fanconi Anemia Patients: looking for new partners and establishment of an iPSC based disease model
Massive sequencing applied to autosomal recessive and X-linked non-syndromic hearing impairment: identification of novel genes, and development and validation of a diagnostic panel
Mesenchymal Stem Cells for the therapy of Perthes disease. Experimental study (terminated)
Mitochondrial alterations in cell models of Parkinson disease (LRRK2 and Parkin): Therapeutic potential of mitochondrial function modulators
Molecular characterization of imprinting control region(s) for pseudohypoparathyroidism: cis and trans approach (terminated)
Molecular studies for the treatment of rare diseases of the skin and skin cancer (terminated)
Molecular study of genes involved in Usher syndrome and candidate genes (PDZD7, NCAM2 and MRPL39). Expression studies of USH genes (terminated)
New insights in Fabry disease: molecular mechanisms involved in the pathology and cloning of biological tools for treatment of the pathology
New mutations in the mitocondrial DNA associated to diseases: characterization in transmitochondrial cybrids constructed with immortalized cellular lines and human adult stem cells (terminated)
New therapeutic approaches in inherited metabolic disease: RNA-based therapy and pharmacological chaperones (terminated)
Niemann-pick type C disease: generation of a murine model and assessment of a new therapeutic approach (terminated)
Oxidative phosphorylation toxicogenomics in Parkinson’s disease
Pathogenesis of Lesch-Nyhan syndrome: hypoxanthine effect on neurotransmission balances during dopaminergic neurone differenciation
Phenotypic and molecular characterization of coenzyme Q deficiency syndromes
Pilot study of deep sequencing targeted on sequences of high interest for genetic diagnosis of intellectual disability
Preclinical characterization of ryanodine receptor stabilizers in patients with muscular dystrophies
Preclinical evaluation of a therapeutic strategy in limb-girdle muscular dystrophy LGMD2A by gene silencing of cellular systems (terminated)
Preventive and Therapeutic Strategies in Patients with Syndromes Noonan, Costello and Cardio-Facio-Cutaneous
Proteomic analysis of serum and urine in patients with acute porphyria
Regulation of the PKA pathway as a therapeutic strategy for Huntington’s disease (terminated)
Research on Prognostic factors for response to drug therapy in patients with autism spectrum disorder
Role of anti-mullerian hormone (amh) as a marker of ovary aging in prenatal screening for Down syndrome
Role of mirnas as biomarkers for early diagnosis in hereditary breast cancer. Expression profiling of tumors, blood and serum
Study of cerebral functional connectivity in food motivation networks in adult patients with Prader-Willi Syndrome (terminated)
Study of genetic changes of 5q-patients treated with Lenalidomide by SNP arrays and sequencing (terminated)
Study of the importance of autophagy in cells from Parkinson patients with mutations in genes PARK
Study on cell mediated immunity diagnosis of pediatric patients with suspected combined immunodeficiency (idc) process
The implementation of universal methodologies to Preimplantation Genetic Diagnosis, the best strategy against minority hereditary diseases
Therapeutic approach to NF2 with gentamicine and PTC 124 drugs correcting nonsense mutations by readthrough (terminated)
Translational research in Spinal Muscular Atrophy: phenotype modifiers, iPSCs derived motor neurons and developmental neuromuscular pathology
Use of patient-specific induced pluripotent stem cells to improve diagnosis and treatment of hemophilia A

2010

A mutational study of the TARDBP gene in the familial and sporadic forms of ALS. Analysis of expression in plasma and CSF of the protein TDP-43 as a biomarker for the disease and its correlation with the neuropathological findings
Analysis of splicing regulatory sequences (enhancers and silencers) of BRCA1 and BRCA2 by hybrid minigenes: aberrant splicing and breast/ovarian cancer. Global analysis of splicing patterns in BRCA-negative patients
Characterization of a new neurodegenerative syndrome linked to R265X mutation in the seipin gene
Congenital Myopathies: A study of the signaling pathways & molecular mechanisms involved in its pathogenesis
Deciphering the role of the NFkB pathway in autoimmunity: celiac disease as a model
Development of a new strategy for the genetic diagnosis of mitochondrial diseases that are caused by nuclear genes
Disruption of iodine and thyroid hormone metabolism in a murine model. Implications for Attention Deficit and Hyperactivity disorders (ADHD) and autism
Effect of melatonin on the development of uroporphyria in a murine model of porphyria cutanea tarda
Etiopathogenic pathways and biomarkers in ALS: genetic expression in patient’s limphocytes and neural stem cell performance from olfactory bulb.
Free access to genetic testing through the internet: impact and implications
From autism to schizophrenia: Study of the biological mechanisms underlying brain dysfunction and structural phenotypes in schizophrenia and autistic spectrum disorders
Functional characterization of oxidative phosphorylation diseases
Genetic component search of the Sudden infant death syndrome (SIDS)
Genetic study of FXPOI in ovarian follicle cells in young PM carrier women of FXS: Correlation with patients’ clinical parameters
Glial cell involvement in Amyotrophic Lateral Sclerosis: a genomics approach
GWAS, GWES & GWLA to characterize susceptibility loci for Hirschsprung disease and thyroid cancer.
Hereditary Breast and Ovarian Cancer Syndrome: in vitro study of unknown significant BRCA1 and BRCA2 variants and search for new genes responsible for this syndrome
Hereditary pyruvate kinase deficiency. Effect of erythropoiesis versus apoptosis balance on the severity of the haemolytic syndrome
Immunopathogenesis of lymphocytic enteritis due to gluten-sensitive enteropathy
Induction of factor VIII by mesenchimal stem cells transplant in a murine model of hemophilia A
Inorganic Polyphosphate as a physiological regulator of von Willebrand Factor, and its role in different subtypes of von Willebrand Disease
Integrative genomic and epigenomic approaches to further asses phenotype severity in Spinal Muscular Atrophy (SMA) patients
Lentiviral vectors for the development of gene therapy protocols for ataxia-teleangiectasia
Mesenchymal Stem Cells for the therapy of Perthes disease. Experimental study
Molecular and physiopathological mechanisms of mitophagy in mitochondrial diseases
Molecular characterization of imprinting control region(s) for PHP: cis and trans approach
Molecular strategy to characterize the genetic base of hereditary disorders of iron metabolism
Molecular studies for the treatment of rare diseases of the skin and skin cancer
Molecular study of genes involved in Usher syndrome and candidate genes (PDZD7, NCAM2 and MRPL39). Expression studies of USH genes
Multiplex lysosomal enzyme genetic analysis using next generation sequencing technology
New mutations in the mitochondrial DNA associated to diseases: characterization in transmitochondrial cybrids constructed with immortalized cellular lines and human adult stem cells
New study strategies for increasing the frequency of gene targeting (gene correction addressed) in human fibroblasts. Targeted recombination and reprogramming of patient fibroblasts
New therapeutic approaches in inherited metabolic disease: RNA-based and pharmacological chaperones therapies
Niemann-pick type C disease: generation of a murine model and assessment of a new therapeutic approach
Novel insights into muscular dystrophy: role of collagen VI, intramuscular adipose tissue and metabolic dysregulation. Implications for diagnosis and therapies
Preclinical evaluation of a therapeutic strategy in limb-girdle muscular dystrophy LGMD2A by gene silencing of cellular systems
Regulation of the phenotypic expression in McArdle´s disease: development of experimental models
Regulation of the pka pathway as a therapeutic strategy for Huntington’s disease
Stem cells like biomarker and/or therapeutic target in Amyotrophic Lateral Sclerosis
Study of cerebral functional connectivity in food motivation networks in adult patients with Prader-Willi Syndrome
Study of genetic changes of 5q-patients treated with Lenalidomide by SNP arrays and sequencing
Study of the degeneration of different cone types and rods in animal models of hereditary or acquired retinal degeneration and their protection of with antioxidants, neuroprotectants and antiapoptotic substances
Systematic analysis of genetic and epigenetic alterations in autism spectrum disorders
Technological innovation of high throughput molecular diagnostics of clinically and molecularly heterogeneous genetic disorders (Techgene): application to mental retardation
Therapeutic approach to NF2 with gentamicine and PTC 124 drugs correcting nonsense mutations by readthrough
Therapeutic challenge in Leukodystrophies: translational and ethical research towards clinical trials (LeukoTreat)