In the 2019 edition dedicated to rare diseases, 228 projects were submitted, of which 41 will receive funding.
A total of seven biomedical research projects, led or involving researchers from Hospital Sant Joan de Déu Barcelona – IRSJD, will be funded thanks to the funds raised by La Marató de TV3 in 2019, dedicated to rare or minority diseases.
In total, this funding amounts to 2,620,000 euros, providing a significant boost to research into these diseases at Sant Joan de Déu, which, due to their rarity, have historically received little attention from the industry and public administration that could fund them.
The projects, submitted under the umbrella of the Fundació per a la Recerca i Docència Sant Joan de Déu, are:
- New strategies for identifying and functionally characterizing prognostic genetic markers in hereditary childhood myelodysplastic syndromes/acute myeloid leukemias, led by Albert Català Temprano.
- TREAT-AHC. Identification of compounds for the treatment of alternating hemiplegia of childhood through drug repositioning. Design and validation of a specific clinical scale, led by Maria Carme Fons Estupiñá.
- Development of personalized treatments for rare genetic diseases causing pediatric parkinsonism, led by Àngels Garcia Cazorla.
- ArmTracker: A wearable system to assess upper limb motor function during daily life in patients with Duchenne muscular dystrophy and spinal muscular atrophy, led by Daniel Natera de Benito.
- Catalan interhospital network of genetic variants to improve genetic diagnosis in rare diseases, led by Délia Yubero Siles.
- Phenylketonuria: from childhood to adulthood through brain connectomics, cardiovascular changes, metabolic characteristics, and gut microbiota, with the participation of Aida Ormazábal Herrero.
- CoALeS: Optimizing long-term outcomes of children with coarctation of the aorta through machine learning integrating data from fetus to childhood, with the participation of Joan Sánchez de Toledo Sancho.
- It is worth noting that Hospital Sant Joan de Déu is a CSUR reference center in various areas for which this funding has been awarded. To obtain this accreditation from the Ministry of Health, it is necessary to demonstrate extensive knowledge and experience in managing different pathologies, techniques, and procedures, as well as to prove a specific volume of activity and ensure the availability of necessary equipment and staff to provide quality patient care.
In total, 228 projects were submitted, which have been evaluated by 190 international scientists specialized in this field. The evaluation considered the project’s quality, methodology, and relevance.
The evaluation process was carried out by the Agency for Healthcare Quality and Assessment of Catalonia, part of the Catalan Department of Health.
Based on the recommendation of the scientific advisory committee of the La Marató de TV3 Foundation, the Board of Trustees has agreed to distribute 12,193,469 euros among the 41 awarded scientific research projects.
Source: www.sjdhospitalbarcelona.org