The Bellvitge Biomedical Research Institute (IDIBELL) has received more than 1.5 million euros from La Marató de TV3 and Catalunya Radio 2019 to finance ten research projects on rare diseases. The 2019 edition of La Marató has made it possible to finance, over the next 3 years, up to 41 biomedical research projects of excellence to obtain tests to detect these diseases at birth, reduce the time of diagnosis, and have efficient, adequate, and secure treatments, to improve the quality and life expectancy of people.
In the 2019 edition, 228 projects were presented that have been reviewed by 190 international scientists who are experts in rare diseases. The selection process has been coordinated by the Catalan Agency for Health Quality and Evaluation, and by the Department of Health, which has assessed quality, methodology, scientific, health and social relevance, innovative value, and viability.
The IDIBELL projects of La Marató 2019
IDIBELL has been one of the institutions with more funded projects, up to 10, of which it leads 7, and participates in 3 more projects as a collaborator.
Among the projects focused on the search for new therapies for rare diseases, Dr. Francisco Javier Narváez leads a project that aims to improve the classification of patients with scleroderma to better treat the disease. On the other hand, the team of Dr. Virgina Nunes and the team of Dr. Miquel Angel Pujana will seek new therapies and biomarkers for cystinuria, a kidney condition in which cystine stones accumulate in the kidney and bladder, and lymphangioleiomyomatosis, a rare lung disease characterized by the progresive destruction of lung tissue; respectively. For her part, Dr. Antonella Consiglio will participate in a project to develop personalized treatments for rare genetic diseases that cause pediatric parkinsonism.
The search for new biomarkers that allow an early diagnosis of this type of disease is also a critical aspect to address more effectively. Dr. Marta Pineda‘s team plans to characterize the initial molecular events of carcinogenesis associated with a syndrome of predisposition to pediatric cancer (constitutional mismatch repair deficiency syndrome), to improve follow-up and prevention. In parallel, Dr. Alessandra Giorgetti will participate in a project that will seek new strategies to identify genetic markers for a type of hereditary childhood leukemia. Finally, Dr. Ariadna Padrón‘s team will be part of a Catalan interhospital network that will study genetic variants for the detection of rare diseases.
Likewise, the team of Dr. Carlos Casasnovas will look for new genetic causes of inherited movement disorders. For her part, Dr. Barbara Rivera will study the mechanism by which hereditary defects in the regulatory RNA production machinery cause indolent nodules and aggressive thyroid cancers, which will help in the classification and treatment of patients at risk. And finally, Dr. Joan Torras will try to decipher the autoimmunity mechanisms of primary membranous nephropathy, a kidney condition that involves thickening of the basement membrane of the glomerulus capillaries, which leads to poor protein filtration.