FUNDED PROJECTS:
RARE DISEASES

cartell MaratóIn the 2009 Marató, which dealt with rare diseases, 287 projects were presented and these were assessed by 134 scientists specialising in these diseases, according to their quality, methodology and relevance. This assessment was managed by the Catalan Agency for Health Technology Assessment and Research, of the Catalan Ministry of Health.
In accordance with the proposal of the scientific Advisory Committee of the Fundació La Marató de TV3, the Board agreed to distribute € 6.350.999 to the following 20 research projects of excellence:

Development of new treatments for myotonic dystrophy: discovery of drugs in vivo

  • Dr. Rubén Darío Artero Allepuz
    Facultat de Ciències Biològiques UV
  • Dr. José Ignacio Borrell Bilbao
    Institut Químic de Sarrià URL
  • Dr. Josep Castells Boliart
    Institut Universitari de Ciència i Tecnologia. Mollet
Fund: 376.820 €

Proteomic analysis of post-translational modifications of transthyretin as an activity marker in patients with hereditary amyloidosis by TTR mutation: a case-control study

  • Dr. Josep M. Campistol Plana
    Hospital Clínic i Provincial de Barcelona
  • Dr. Francesc Canals Surís
    Vall d'Hebron Institut d'Oncologia
  • Dra. Magda Faijes Simona
    Institut Químic de Sarrià URL
Fund: 445.312,50 €

Functional role of splicing factors in autosomal dominant retinitis pigmentosa (ad RP): decoding the new molecular mechanisms in Caenorhabditis elegans to explore new therapies

  • Dr. Julián Cerón Madrigal
    Institut d'Investigació Biomèdica de Bellvitge
Fund: 180.133,33 €

Clinical spectrum and cellular and synaptic mechanisms of forms of autoimmune synaptic encephalitis

  • Dr. Josep Dalmau Obrador
    Institut d'Investigacions Biomèdiques August Pi i Sunyer
  • Dra. Rita Balice-Gordon
    School of Medicine. University of Pennsylvania. EUA
Fund: 331.200 €

Does Ret signalling play an important role in Smith-Lemli-Opitz syndrome?

  • Dr. Mario Encinas Martín
    Hospital Universitari Arnau de Vilanova
Fund: 189.537,50 €

Cholesterol and glycosphingolipids in liver and brain mitochondria and alteration of the metabolism contributes to the pathology of Niemann Pick disease type C and caveolinopathies

  • Dr. José Carlos Fernández Checa
    Institut d'Investigacions Biomèdiques de Barcelona
  • Dr. Albert Pol Sorolla
    Institut d'Investigacions Biomèdiques August Pi i Sunyer
Fund: 348.643,75 €

Inhibition of the Notch pathway as a therapeutic target in rhabdomyosarcoma

  • Dra. Soledad Gallego Melcon
    Hospital Universitari Vall d'Hebron
Fund: 179.720 €

Role of the OR cyclin in ataxia telangiectasia

  • Dr. Gabriel Gil Gómez
    Institut Municipal d'Investigació Mèdica
Fund: 198.750 €

Clinical, genetic, epidemiological, pathophysiological and translational studies in the spinocerebellar ataxias

  • Dr. Antoni Matilla Dueñas
    Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
  • Dr. Victor Volpini Bertran
    Institut d'Investigació Biomèdica de Bellvitge
  • Dr. F. Xavier Gomis Rüth
    Institut de Biologia Molecular de Barcelona
  • Dra. Lluisa Juan Pereria
    Hospital Sant Joan de Déu. Martorell
  • Dr. Joaquin Serena Leal
    Hospital Universitari de Girona Dr. Josep Trueta
Fund: 481.980 €

Global characterisation of underlying defects in DNA methylation in all the syndromes connected with genetic imprinting caused by epimutations

  • Dr. David Monk
    Institut d'Investigació Biomèdica de Bellvitge
  • Dr. Pablo D. Lapunzina Badia
    Hospital Universitario La Paz. Madrid
Fund: 297.142,50 €

Study of the role of nitro-oxidative stress in the formation of A-beta oligomers and fibrils and their toxicity in the skeletal muscle in inclusion body myopathy type 2

  • Dr. Francisco José Muñoz López
    Facultat de Ciències de la Salut i de la Vida UPF
Fund: 195.386,25 €

Friedreich’s Ataxia Integrative Research Consortium (FAIR): a physiopathological and therapeutic approach

  • Dr. Francesc Palau Martínez
    Institut de Biomedicina de València CSIC
  • Dr. Enric Querol Murillo
    Institut de Biotecnologia i Biomedicina UAB
  • Dra. Maria Dolores Moltó Ruiz
    Facultat de Ciències Biològiques UV
  • Dr. Jordi Tamarit Sumalla
    Facultat de Medicina UdL
Fund: 436.815 €

Understanding and combating the progression of Duchenne muscular dystrophy in animal models

  • Dr. Eusebio Perdiguero Santamaria
    Facultat de Ciències de la Salut i de la Vida UPF
Fund: 193.707,50 €

Study of the functions of the cohesin complex in Cornelia de Lange syndrome

  • Dra. Ethelvina Queralt Badia
    Institut d'Investigació Biomèdica de Bellvitge
  • Dra. Susana Rodríguez Navarro
    Centro de Investigación Príncipe Felipe. València
Fund: 311.383,33 €

Analysis of novel antigens in seronegative neuromyelitis optica (IgG-NMO/AQP4) (Devic’s disease)

  • Dr. Albert Saiz Hinarejos
    Hospital Clínic i Provincial de Barcelona
Fund: 162.500 €

Identification of the androgen receptor aggregates that cause spinal-bulbar muscular atrophy

  • Dr. Xavier Salvatella Giralt
    Institut de Recerca Biomèdica de Barcelona
  • Dra. Eva Estébanez Perpiñá
    Institut de Biomedicina de la Universitat de Barcelona
  • Dra. Leila Luleshi
    University of Cambrigde UK
Fund: 396.632,50 €

Lafora progressive myoclonic epilepsy: physiopathological bases of the disease and therapeutic approaches

  • Dr. Pascual Sanz Bigorra
    Institut de Biomedicina de València CSIC
  • Dr. Erwin-Carlos Knecht Roberto
    Centro de Investigación Príncipe Felipe. Valencia
  • Dr. Santiago Rodríguez de Córdoba
    Centro de Investigaciones Biológicas. Madrid
Fund: 497.233,75 €

Development of nanomedicines for enzyme replacement therapy in Fabry’s disease

  • Dr. Simó Schwartz Navarro
    Hospital Universitari Vall d'Hebron
  • Dra. Maria García Parajo
    Institut de Bioenginyeria de Catalunya IBEC
  • Dr. Fausto Sanz Carrasco
    Facultat de Química UB
  • Dr. Manuel Trías Folch
    Hospital de la Santa Creu i Sant Pau
  • Dr. Jaume Veciana Miró
    Institut de Ciència de Materials de Barcelona CSIC
  • Dr. José Luis Corchero Nieto
    Institut de Biotecnologia i Biomedicina UAB
Fund: 475.000 €

Evaluation of focal adhesions as new therapeutic targets in acute myeloid leukaemia

  • Dr. Jordi Sierra Gil
    Hospital de la Santa Creu i Sant Pau
  • Dr. Miguel Ángel Sanz Alonso
    Hospital Universitari La Fe. València
  • Dr. Marcos González Díaz
    Hospital Universitario de Salamanca
Fund: 403.750 €

Creation of a Catalan network for diagnosis and clinical follow-up of the rare anaemias caused by major haemoglobinopathies

  • Dr. Joan-Lluís Vives Corrons
    Hospital Clínic i Provincial de Barcelona
  • Dra. Isabel Badell Serra
    Hospital de la Santa Creu i Sant Pau
Fund: 249.351,54 €