The Vall d'Hebron Research Institute (VHIR) has received euros731,387.66 from La Marató de TV3 I Catalunya Ràdio 2019 to finance a total of 6 research projects. This year, La Marató will promote 41 biomedical research projects of excellence in rare diseases, aimed at obtaining tests to detect these diseases at the time of birth, reduce diagnosis times and provide efficient and safe treatments to improve life quality and expectancy of those affected.In the 2019 edition, 228 projects were submitted to the call for research grants. 190 international scientists who are experts in rare diseases have reviewed the candidate works in an evaluation process coordinated by the Agència de Qualitat i Avaluació Sanitàries de Catalunya, from the Department of Health. Among the VHIR projects, there is one individual project and five projects coordinated with other centers, one of which is led by VHIR researchers.Dr. Conxita Jacobs, researcher at the Nephrology group, leads the project "Role of Apolipoprotein A-Ib in the idiopathic nephrotic syndrome". It is carried out completely by VHIR and has received euros199,966.31. In previous studies, the VHIR team found that there was an abnormally modified form of the ApoA-I protein that was linked to the recurrence of idiopathic nephrotic syndrome, a rare kidney disease, after transplantation. Now, the project aims to study this protein to see if it could predict the risk of losing the kidney in patients without transplantation.Dr. Ramón Martí, head of the Neuromuscular and Mitochondrial Pathology group, coordinates the project "Deoxyribonucleosides as a therapy for mitochondrial DNA replication disorders: understanding therapeutic mechanisms and broadening the treatment to mutations in POLG and other related genes". It has received euros163,812.50. The aim of the project is to test in mice whether the administration of deoxynucleosides would be useful for the treatment of POLG protein deficiency and other diseases.As a researcher in the same group, Dr. Elena García has received euros142,966.35 for the project "Creation and evaluation of an inter-hospital network of genetic variants in Catalonia for the improvement of the genetic diagnosis of minority diseases" where the VHIR collaborates. This study focuses on massive DNA sequencing, a technique widely used in the field of rare diseases since 80% of them have a genetic basis. The idea of the project is to create a network between genetics departments of several Catalan hospitals to be able to consult the data that each of them has generated in recent years.Dr. Maria Jose Soler, principal investigator of the Nephrology group, has received euros 100,767.50 for the project "Deciphering the Mechanisms of PLA2R-specific B-cell Autoimmunity in Primary Membranous Nephropathy (PMN)(BCELL-MEM)" in which she participates from the VHIR. Primary membranous nephropathy is one of the most common causes of nephrotic syndrome in adults, that is, loss of protein through the urine. This project aims to study and describe the mechanisms by which B lymphocytes and other lymphocytes contribute to the onset of this disease.Dr. Berta Saez, a researcher in the Pneumology group, has received euros51,625 for the project in which she participates, "Towards improving clinical management and care of lymphangioleiomyomatosis: integrative study of biomarkers and therapies (IMPROVE)". Lymphangioleiomyomatosis is a rare lung disease that has important challenges in the care and care of patients. The IMPROVE project aims to address limitations in diagnosis to improve disease care through the study of new biomarkers and the evaluation of new therapies.Finally, Dr. Carmen Pilar Simeón y Aznar, principal investigator of the Systemic Diseases group, participates in the project "Design of an integrative patients stratification approach for the systemic sclerosis management" which has received euros72,250 in funding. Scleroderma is a disease that causes poor blood circulation due to narrowing of the blood vessels, allergic reactions against the body itself and stiffening of many organs, which therefore lose their functionality. The objective of the study is to understand the origin and evolution of the disease in order to better monitor the patients and treat them with drugs that slow down the expected evolution.