FUNDED PROJECTS:
HEREDITARY GENETIC DISEASES

cartell MaratóFollowing the 1997 edition, which was dedicated to hereditary genetic diseases, the sum of €3,681,718 was distributed among the 35 biomedical researh projects listed below and used to support research on these diseases. The results were published in the IV Simposium Fundació La Marató de TV3, which took place in 2003.
Below is a list of the projects financed by La Marató in 1997. Those that led to the production of scientific literature are underlined.

A New Strategy of Gene Therapy for Cystic Fibrosis: Correction of Mutations in the CFTR Gene Using RNA/DNA Hybrid Oligonucleotides

  • Dr. Josep Maria Aran Perramon
    Centre de Genètica Mèdica i Molecular. Institut de Recerca Oncològica
Fund: 86.275 €

Development of a Murine Model for Gene Therapy in Hereditary Congenital Deafness Due to Mutations in the Gene of Connexin-26

  • Dra. Maria Lourdes Arbonés de Rafael
    Centre de Genètica Mèdica i Molecular. Institut de Recerca Oncològica
Fund: 110.396 €

Development of Optimized Retroviral Vectors for Chronic Granulomatose Disease

  • Dra. Montserrat Baiget Bastús
    Hospital de la Santa Creu i Sant Pau
Fund: 47.244 €

Study of Phenotypic Variability in Patients with Azoospermia: Analysis of the Mutations and Levels of Tissue Expression of the CFTR Gene

  • Dr. Lluís Bassas Arnau
    Institut d'Urologia, Nefrologia i Andrologia. Fundació Puigvert
Fund: 101.739 €

Natural History of Cystic Fibrosis: Geographic Interpretation of Genetic Variation

  • Dr. Jaume Bertranpetit Busquets
    Facultat de Ciències de la Salut i de la Vida. Universitat Pompeu Fabra
Fund: 42.065 €

Identification and Description of Clinical Trials on Cystic Fibrosis and Muscular Dystrophy (1948-1998)

  • Dr. Xavier Bonfill Cosp
    Consorci Hospitalari del Parc Taulí
Fund: 14.749 €

Transgenic Animals as Models of Intolerance to Fructose and Muscular Glycogenosis

  • Dra. Fàtima Bosch Tubert
    Facultat de Veterinària. Universitat Autònoma de Barcelona
  • Dr. Juan Emilio Felíu Albiñana
    Hospital Universitario Clínica Puerta de Hierro. Madrid
Fund: 165.214 €

Analysis of Deletions and Genes Involved in William's Syndrome

  • Dra. Ana M. Carrió Ybáñez
    Hospital Clínic i Provincial de Barcelona
Fund: 70.307 €

Neurotrophic Factors and their Signal Translation Paths as Therapeutic Targets in Treatment of Neuro-Degenerative Diseases

  • Dr. Joan X. Comella Carnicé
    Facultat de Medicina. Universitat de Lleida
  • Dr. Jordi García Fernández
    Facultat de Biologia. Universitat de Barcelona
Fund: 135.228 €

Clinical-Molecular Analysis of Dominant Autosomic Renal Polycystosis and Other Renal Cystic Diseases

  • Dr. Alejandro Darnell Tey
    Hospital Clínic i Provincial de Barcelona
Fund: 82.439 €

Analysis of Molecular Interactions of Cystic Fibrosis Transmembrane Protein (CFTR) with Plasmatic Membrane of Epithelial Cells. Role of CFTR in Infection by Pseudomonas aeruginosa

  • Dr. Carlos Enrich Bastus
    Facultat de Medicina. Universitat de Barcelona
Fund: 124.109 €

Impact of Early Indication of Ventilatory Support on the Quality of Life and Survival in Neuromuscular Diseases

  • Dr. Joan Escarrabill Sanglas
    Ciutat Sanitària i Universitària de Bellvitge
Fund: 18.030 €

Development and Characterization of Murine Models of Over-Expression of Genes Contained in the DUP25 Genome Mutation, involved in Anxiety Disorders (Panic)

  • Dr. Xavier Estivill Pallejà
    Centre de Genètica Mèdica i Molecular. Institut de Recerca Oncològica
Fund: 164.987 €

Study of the Proteins Intervening in Pathogenesis of Muscular Dystrophy in Infancy and Adolescence. Clinical, Immuno-Histochemical, Biochemical and Genetic Correlations

  • Dr. Emilio Fernández Àlvarez
    Hospital Universitari Sant Joan de Deu
Fund: 129.743 €

Inherited +Adenopolyposis: Characterization of Genes Involved in the Appearance of Adenomas in Intestinal Epithelia

  • Dr. Antonio García de Herreros Madueño
    Institut Municipal d'Investigació Mèdica
Fund: 102.174 €

Molecular Characterization of Mutations in the Genes of HMG-CoA Lyase and HMG-CoA Mitochondrial Synthase that Cause Hereditary Gene Deficiencies

  • Dr. Fausto García Hegardt
    Facultat de Farmàcia. Universitat de Barcelona
Fund: 134.383 €

Design and Synthesis of Peptide Dendrimers for "Pulmonary Drug Administration" in People with Cystic Fibrosis

  • Dr. Ernest Giralt Lledó
    Facultat de Química. Universitat de Barcelona
Fund: 155.241 €

Expression and Characterization of Mutant alleles causing Gaucher's Disease, Metachromatic Leukodystrophy and GM2 Gangliosidosis. Preliminary Studies for Gene Therapy

  • Dr. Daniel Grinberg Vaisman
    Facultat de Biologia. Universitat de Barcelona
  • Dra. Amparo Chabás Bergón
    Institut de Bioquímica Clínica. Consorci Sanitari Clínic
Fund: 78.443 €

Evaluation of Neonatal Screening of Cystic Fibrosis

  • Dr. Albert J. Jovell Fernández
    Agència d'Avaluació de Tecnologia Mèdica
Fund: 8.099 €

Genetic Regulation of Programmed Cell Death in Developing Striated Muscle

  • Dr. Alfons Macaya Ruiz
    Hospital Materno-Infantil Vall d'Hebron
Fund: 74.646 €

Study of the Possibility of Induction in the Expansion of Repetitions of Trinucleotides in Myotonic Dystrophy

  • Dr. Ricard Marcos Dauder
    Facultat de Ciències. Universitat Autònoma de Barcelona
Fund: 51.086 €

Systematic Review of Scientific Evidence on Prophylactic Administration of Antibiotics and Anti-inflammatory Drugs in Early Treatment of Cystic Fibrosis

  • Dr. Albert Marín Pérez
    Consorci Hospitalari del Parc Taulí. Sabadell
Fund: 4.628 €

Fragile Chromosome X Syndrome (FRAXA and FRXE). Clinical and Molecular Evaluation of 250 Patients Diagnosed. Studies on Methylation and Transitory Expression of the Gene FMR1 in Different Cell Lines

  • Dra. Montserrat Milà Recasens
    Hospital Clínic i Provincial de Barcelona
Fund: 90.048 €

Study on Genetic Factors Determining the Evolution of Congenital Emphysema due to a Deficit of Alfa-1-antitripsin

  • Dr. Marc Miravitlles Fernández
    Hospital General Universitari Vall d'Hebron
Fund: 55.143 €

Role of the uPA Proteolitic Enzyme in Muscle Regeneration of Mice Deficient in uPA (uPA-/-) and mdx Muscle Mutant Mice and in vivo Wobbler

  • Dra. Pura Muñoz Cánoves
    Institut de Recerca Oncològica
Fund: 172.949,95 €

Preconceptional Diagnosis of Cystic Fibrosis

  • Dra. Joaquima Navarro Ferreté
    Facultat de Medicina. Universitat Autònoma de Barcelona
Fund: 75.579 €

Identifying a New+Cystinuria Gene: Molecular Base of Non-I/I-Type Cystinuria

  • Dra. Virginia Nunes Martínez
    Centre de Genètica Mèdica i Molecular. Institut de Recerca Oncològica
  • Dr. Manuel Palacín Prieto
    Facultat de Biologia. Universitat de Barcelona
  • Dr. Pedro Barceló Reverté
    Institut d'Urologia, Nefrologia i Andrologia. Fundació Puigvert
Fund: 288.563 €

Evaluation of the Cost-Effectiveness Relationship of Molecular Genetic Analysis in Early Diagnosis of Hereditary Haemochromatosis and Perspectives for Prevention and Treatment

  • Dr. Rafael Oliva Virgili
    Hospital Clínic i Provincial de Barcelona
Fund: 52.165 €

Role of Cyclooxygenase-2 (COX-2) in Inflammation of Cystic Fibrosis. Study of the Clinical Effectiveness of Selective Inhibitors of COX-2

  • Dr. César Picado Vallés
    Hospital Clínic i Provincial de Barcelona
  • Dr. Emili Gelpí Monteys
    Institut d'Investigacions Biomèdiques de Barcelona
  • Dr. Antonio Moreno Galdó
    Hospital Maternoinfantil Vall d'Hebron
Fund: 234.184 €

Study of the Expression of Structural Proteins of the Membrane in the Evolutionary Course of Disease in the mdx Mouse

  • Dr. Manuel Roig Quilis
    Hospital Materno-Infantil Vall d'Hebron
Fund: 102.498 €

Releasing ATP through the Transmembrane Regulator of Cystic Fibrosis

  • Dr. Carles Solsona Sancho
    Facultat de Medicina. Universitat de Barcelona
Fund: 136.880 €

Function of the SMN (Survival Motor Neuron) Gene in Pathogenesis of Spinal Muscular Atrophy: Ontogenetic Expression in Humans, in Transfected Cells of Patients and in the Animal Model of the Disease

  • Dr. Eduardo Fidel Tizzano Ferrari
    Hospital de la Santa Creu i Sant Pau
Fund: 153.547 €

Genetic Analysis of Dominant Hereditary Ataxia. Identifying and Characterizing Dynamic Mutations

  • Dr. Víctor Volpini Bertran
    Centre de Genètica Mèdica i Molecular. Institut de Recerca Oncològica
Fund: 39.808 €

Genome Instability and Hereditary Diseases: Study of the Somatic and Germinal Instability of Myotonic Dystrophy (MD) or Steinert's Disease

  • Dra. Montserrat Baiget Bastús
    Hospital de la Santa Creu i Sant Pau
Fund: 164.008 €

Desenvolupament de vectors retrovírics optimitzats per la malaltia granulomatosa crònica

  • Dr. Jordi Barquinero Máñez
    Centre de Genètica Teràpia Cel·lular. Institut de Recerca Oncològica
Fund: 47.244 €
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