PRESENTATION

In 2009, La Marató de TV3 took up the challenge of giving public visibility to the rare diseases, a group that includes over 7,000 different serious and chronic diseases that have very low incidence, affecting at most 5 people in every 10,000. It is therefore a very large number of diseases that a very small number of people suffer from, but altogether there are 400.000 people affected in Catalonia. That is a large minority.

The 15 hours of live broadcasting hosted by Josep Cuní, along with the pre-broadcast publicity campaign, did everything possible to raise awareness about a group of diseases that are largely unknown to society because of their great number, diversity and complexity.

The public responded enthusiastically to the call to take part in La Marató. Associations from all around Catalonia organised hundreds of activities: 100,000 youngsters heard talks in their schools, 2,500 volunteers helped by answering phone calls for donations in the call centres, and the new editions of the La Marató disc and book sold as well as ever.

All this social movement and the support of thousands of individuals, companies and institutions ended up with €7,120,569 on the scoreboard.

These resources provided funding for 20 biomedical research projects of excellence, of which we now present the results. While the 2009 La Marató helped to make rare diseases visible, the demanding and rigorous work of the 47 funded investigators was converted into improvements in the diagnosis, treatment and quality of life of people affected by these diseases. In this way, La Marató 2009 accomplished its twofold goal: to promote biomedical research of excellence and to raise public awareness.

The 20 projects that were run were the ones with the highest scores of the 287 that applied for assistance from the Foundation. They were assessed by 134 experts of international renown, who evaluated them according to their quality, methodology and relevancies in a peer review process of proven transparency and rigour. The Catalan Agency for Health Technology Assessment and Research (AQuAS) co-ordinated this process.

The 16th Symposium is a meeting point for the scientists who have carried out the research funded by La Marató and the public, who made this boost to research possible. All the energy, hard work and support that was invested in 2009 now goes back to the public in the from of breakthroughs in the knowledge of rare diseases.

The Institute of Catalan Studies is hosting this event, in a setting that will showcase the scientific and social action to increase understanding undertaken by La Marató de TV3.

Single-centre projects
7
Co-ordinated projects
13

Of the twenty projects funded by La Marató 2009 over half were co-ordinated, linking research groups in Catalan centres with others around Spain and in other countries, thereby boosting networking and the projection of the results.

PROJECTS

Development of novel treatments for myotonic dystrophy: in vivo drug discovery

Dr Rubén Darío Artero Allepuz
Faculty of Biological Sciences, University of Valencia
Dr José Ignacio Borrell Bilbao
Universitat Ramon Llull. Escola Tècnica Superior IQS
Dr Josep Castells Boliart
Institut Universitari Ciència i Tecnologia Mollet

> Results (in Catalan)> Report

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
FCRB Fundació Clínic per a la Recerca Biomèdica. Hospital Clínic i Provincial de Barcelona
Dr Francesc Canals Surís
Vall d'Hebron Institut d'Oncologia
Dr Magda Faijes Simona
Institut Químic de Sarrià Universitat Ramon Llull (URL), Barcelona

> Results (in Catalan)> Report

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
IDIBELL Institut d'Investigació Biomèdica de Bellvitge




> Results (in Catalan)> Report

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

Dr Josep Dalmau Obrador
IDIBAPS Institut d'Investigació Biomèdica August Pí i Sunyer
Dr Rita Balice-Gordon
University of Pennsylvania. School of Medicine, Pennsylvania

> Results (in Catalan)> Report

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

Dr Mario Encinas Martín
Institut de Recerca Biomèdica de Lleida Fundació Dr. Pifarré. Hospital Universitari Arnau de Vilanova Lleida

> Results (in Catalan)> Report

Hepatic and brain mitochondrial cholesterol/sphingolipids and altered metabolism contribute to the pathology of Niemann Pick type C disease and caveolinopathies

Dr José Carlos Fernández Checa
CSIC Consell Superior d'Investigacions Científiques. Institut Investigacions Biomèdiques de Barcelona
Dr Albert Pol Sorolla
IDIBAPS Institut d'Investigació Biomèdica August Pí i Sunyer

> Results (in Catalan)> Report

Notch pathway inhibition as therapeutic target in rhabdomyosarcoma

Dr Soledad Gallego
Vall d'Hebron University Hospital – Vall d’Hebron Research Institute

> Results (in Catalan)> Report

Role of the OR cyclin in ataxia telangiectasia

Dr Gabriel Gil Gómez
FIMIM Fundació Institut Mar d'Investigacions Mèdiques (IMIM). IMIM-Institut de Recerca Hospital del Mar

> Results (in Catalan)> Report

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

Dr Antoni Matilla Dueñas
Research Institute for Health Sciences Germans Trias i Pujol (IGTP)
Dr Victor Volpini Bertran
IDIBELL Fundació Institut d'Investigació Biomèdica de Bellvitge
Dr F. Xavier Gomis Rüth
CSIC Consell Superior d'Investigacions Científiques. Institut Biologia Molecular de BCN CSIC
Dr Lluisa Juan Pereira
Fundació Hospital St. Joan de Déu de Martorell. Hospital Sant Joan de Déu Martorell
Dr Joaquin Serena Leal
IDIBGi Institut d'Investigació Biomèdica de Girona Dr J. Trueta. Hospital Universitari Dr Josep Trueta Girona

> Results (in Catalan)> Report

Comprehensive characterisation of the underlying DNA methylation defects associated with all epimutated imprinting syndromes

Dr David Monk
IDIBELL Institut d'Investigació Biomèdica de Bellvitge
Dr Pablo D. Lapunzina Badia
Fundación para la Investigación Biomédica. Hospital Universitario La Paz. Madrid

> Results (in Catalan)> Report

Study of the role of nitro-oxidative stress in the formation of oligomer and fibers of Aß and toxicity in skeletal muscle myopathy with type 2 inclusion bodies

Dr Francisco J. Muñoz López
Universitat Pompeu Fabra (Barcelona)

> Results (in Catalan)> Report

Friedreich’s ataxia integrative research: Pathophysiological and therapeutic approach (FAIR)

Dr Francesc Palau Martínez
CIBER Centro de Investigación Biomédica en Red. . Institut Biomedicina de València CSIC
Dr Enric Querol Murillo
Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona) (UAB)
Dr Maria Dolores Moltó Ruiz
Facultat de Ciències Biològiques, University of Valencia (UV)
Dr Jordi Tamarit Sumalla
Facultat de Medicina, Universitat de Lleida (UdL)

> Results (in Catalan)> Report

Understanding and combating Duchenne muscular dystrophy progression in animal models

Dr Eusebio Perdiguero Santamaria
Faculty of Health and Life Sciences. Universitat Pompeu Fabra(UPF), Barcelona

> Results (in Catalan)> Report

Study of cohesin functions in Cornelia de Lange Syndrome

Dr Ethelvina Queralt Badia
IDIBELL Fundació Institut d'Investigació Biomèdica de Bellvitge
Dr Susana Rodríguez Navarro
Fundación Valenciana Centro de Investigación Príncipe Felipe

> Results (in Catalan)> Report

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

Dr Albert Saiz
Fundació Clínic per a la Recerca Biomédica, Hospital Clínic de Barcelona

> Results (in Catalan)> Report

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

Dr Xavier Salvatella Giralt
CSIC Consell Superior d'Investigacions Científiques. Institut Recerca Biomèdica de Barcelona
Dr Eva Estébanez Perpiñá
Universitat de Barcelona. Institut de Biomedicina UB
Dr Leila Luheshi
University of Cambridge

> Results (in Catalan)> Report

Lafora progressive myoclonus epilepsy: physiopathological basis of the disease and therapeutic approaches.

Dr Pascual Sanz Bigorra
Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, and Instituto de Biomedicina de Valencia, CSIC, Valencia
Dr Erwin Knecht Roberto
Centro de Investigación Príncipe Felipe, Valencia
Dr Santiago Rodríguez de Córdoba
Centro de Investigaciones Biológicas, CSIC, Madrid

> Results (in Catalan)> Report

Development of nanomedicines for enzyme replacement therapy in Fabry disease

Dr Simó Schwartz Navarro
VHIR Institut de Recerca Hospital Universitari Vall d'Hebron
Dr 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, Universitat Autònoma de Barcelona) (UAB)

> Results (in Catalan)> Report

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

Dr Jordi Sierra Gil
IRHSP Institut de Recerca Hospital de la Santa Creu i Sant Pau
Dr Miguel Ángel Sanz Alonso
Fundación para la Investigación del Hospital Universitario La Fe. Hospital Universitari i Politècnic La Fe València
Dr Marcos González Díaz
Hospital Universitario de Salamanca (SACYL)

> Results (in Catalan)> Report

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

Dr Joan-Lluís Vives Corrons
FCRB Fundació Clínic per a la Recerca Biomèdica. Hospital Clínic i Provincial de Barcelona
Dr Isabel Badell Serra
IRHSP Institut de Recerca H Sta Creu i St Pau - IIB St Pau

> Results (in Catalan)> Report

VIDEOS

Dr. Rubén Darío Artero Allepuz
Dr. José Ignacio Borrell Bilbao
Dr. Josep Castells Boliart
Dr. Josep M. Campistol Plana
Dr. Francesc Canals Surís
Dra. Magda Faijes Simona
Dr. Julián Cerón Madrigal




Dr. Josep Dalmau Obrador
Dra. Rita Balice-Gordon
Dr. Mario Encinas Martín
Dr. José Carlos Fernández Checa
Dr. Albert Pol Sorolla
Dra. Soledad Gallego



Dr. Gabriel Gil Gómez
Dr. Antoni Matilla Dueñas
Dr. Victor Volpini Bertran
Dr. F. Xavier Gomis Rüth
Dra. Lluisa Juan Pereira
Dr. Joaquin Serena Leal
Dr. David Monk
Dr. Pablo D. Lapunzina Badia
Dr. Francisco J. Muñoz López




Dr. Francesc Palau Martínez
Dr. Enric Querol Murillo
Dra. Maria Dolores Moltó Ruiz
Dr. Jordi Tamarit Sumalla
Dr. Eusebio Perdiguero Santamaria
Dra. Ethelvina Queralt Badia
Dra. Susana Rodríguez Navarro
Dr. Albert Saiz




Dr. Xavier Salvatella Giralt
Dra. Eva Estébanez Perpiñá
Dra. Leila Luheshi
Dr. Pascual Sanz Bigorra
Dr. Erwin Knecht Roberto
Dr. Santiago Rodríguez de Córdoba
Dr. Jordi Sierra Gil
Dr. Miguel Ángel Sanz Alonso
Dr. Marcos González Díaz
Dr. Simó Schwartz Navarro
Dra. Maria García Parajo
Dr. Fausto Sanz Carrasco
Dr. Manuel Trías Folch
Dr. Jaume Veciana Miró
Dr. José Luis Corchero Nieto




Dr. Joan-Lluís Vives Corrons
Dra. Isabel Badell Serra

COLLABORATORS