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La Marató 2019: UB’s science supports the fight against rare diseases

In the 2019 edition, a total of 228 rare diseases projects were submitted.

In the 2019 edition, a total of 228 rare diseases projects were submitted.

10/12/2020

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La Marató de TV3 and Catalunya Ràdio will give 14.053.915€ to a total of 41 research projects focused on the study of rare diseases. In the 2019 edition, a total of 228 projects were submitted, and were assessed according to its quality, methodology and relevance by 190 internationally distinguished experts on the issue. He management of this assessment was carried out by the Agency for Health Quality and Assessment of Catalonia, from the Department of Health.

With the funds raised by La Marató, leading research will be funded to improve the detection of rare diseases in birth, to reduce the necessary time to diagnose diseases, to have enough appropriate and safe treatments, and to improve the quality and life expectancy of those affected. During its 28 years of existence, La Marató has promoted 913 research project –with participation of 8,500 researchers–, that provided significant advances in society’s health.

 

Like in previous editions, the research carried out at the UB is present in the awarded projects in this new call to support research.

Awarded projects in La Marató 2019 linked to the University of Barcelona:

 

"New strategies for the identification and functional characterization of prognostic genetic markers in myelodyspastic syndromes / acute hereditary myeloblastic leukemias in childhood"

Alessandra Giorgetti, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBELL; Albert Català (Foundation for Research and Teaching Hospital Sant Joan de Déu); José Vicente Cervera (Foundation for Research University Hospital La Fe)

Funding: 399,673.50 €

 

"Advanced genomics and lipidomics for the identification of new genetic causes of hereditary movement disorders"

Carlos Casasnovas, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBELL; Gemma Fabriàs (Institute of Advanced Chemistry of Catalonia – CSIC); Adolfo López de Munain (Biodonostia Health Research Institute)

Funding: 394,682.50 €

 

“Patient-focused research: a study of patient needs, clinical phenotyping, and molecular pathogenesis in type 2 neurofibromatosis”

Jordi Llorens, Faculty of Medicine and Health Sciences (University of Barcelona); Elisabeth Castellanos (Health Sciences Research Institute of the Germans Trias i Pujol Foundation (IGTP))

Funding: 299,608.40 €

 

"PSP Registry: Clinical Cohort Study, Biomarker Research, and Health Education Program"

Yaroslau Compta, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBAPS

Funding: 199,220.00 €

 

“Development of personalized treatments in rare genetic diseases causing pediatric parkinsonism”

Àngels Garcia, Faculty of Medicine and Health Sciences (University of Barcelona) and Foundation for Research and Teaching Hospital Sant Joan de Déu; Antonella Consiglio, Faculty of Medicine and Health Sciences (University of Barcelona), Institute of Biomedicine of the UB (IBUB) and IDIBELL; Aurora Martínez (Bergen University)

Funding: 361,752.49 €

 

"Gliotransmitters and cannabinoid receptors in the origin of cognitive deficits and synaptic plasticity in Huntington's disease"

Silvia Ginés, Faculty of Medicine and Health Sciences (University of Barcelona); Manuel Guzmán (Complutense University of Madrid); Gertrudis Perea (Institut Cajal – CSIC)

Funding: 319,708.75 €

 

"Phenylketonuria: from childhood to adults through cerebral connectome, cardiovascular changes, metabolic characteristics and intestinal microbiota"

Josep M. Grau, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBAPS; Carme Junqué, Faculty of Medicine and Health Sciences (University of Barcelona); Aida Ormazábal (Foundation for Research and Teaching Hospital Sant Joan de Déu)

Funding: 399,990.00 €

 

"Removing senescent cells to control comorbidities of Cushing's syndrome" Felicia A. Hanzu, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBAPS; Salvador Macip (University of Leicester)

Funding: 299,987.50 €

 

"Deoxyribonucleosides as Therapy for Mitochondrial DNA Replication Disorders: Investigating Therapeutic Mechanisms and Extending Treatment to Mutations in POLGs and other Genes"

Marçal Pastor-Anglada, Faculty of Biology (University of Barcelona) and Institute of Biomedicine of the UB (IBUB); Ramon Martí (Research Institute University Hospital Vall d’Hebron Foundation)

Funding: 296,375.00 €

 

"Design of a comprehensive approach for the stratification of patients with scleroderma that allows better treatment of the pathology"

Francisco Javier Narváez, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBELL; Carmen Pilar Simeón (Research Institute University Hospital Vall d’Hebron Foundation); Tarek Carlos Salmán (Hospital del Mar Medical Research Institute Founfation)

Funding: 379,020.52 €

 

"Therapeutic strategies for cystinuria"

Virgínia Nunes, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBELL; Manuel Palacín, Faculty of Biology (University of Barcelona) and IRBB; Federico V. Pallardó Calatayud (Research Foundation of Hospital Clínic Universitari de València - INCLIVA)

Funding: 398,289.99 €

 

"Modulation of mitochondrial retrograde signalling as a treatment for Leigh syndrome"

Francesc X. Soriano, Faculty of Biology (University of Barcelona); Albert Quintana (UAB)

Funding: 300,000.00 €

 

"Dysfunction of the blood-brain barrier and modulation of oxidative stress in cerebral arteriovenous malformations: A translational study of secondary damage after surgical resection"

Ramon Torné, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBAPS; Abraham Martín (Fundazioa Achucarro Basque Center for Neuroscience); Ana Rodríguez-Hernández (Health Sciences Research Institute of the Germans Trias i Pujol Foundation (IGTP))

Funding: 398,695.35 €

 

"Deciphering the mechanisms of PLA2R-specific B cell autoimmunity in primary membranous nephropathy (PMN) (BCELL-MEM)"

Joan Torras, Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBELL; María José Soler (Research Institute University Hospital Vall d’Hebron Foundation)

Funding: 299,873.04 €

 

"Inhibition of ACVR1-PI3K in progressive ossifying fibro-dysplasia: new therapies for heterotopic ossification"

Francesc Ventura, , Faculty of Medicine and Health Sciences (University of Barcelona) and IDIBELL; Gonzalo Sánchez (Leiden University Medical Centre – LUMC)

Funding: 289,875.00 €

 

Funded projects by La Marató 2019

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