Fundació Hospital Universitari vall d'Hebron - Institut de Recerca ()

Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca (VHIR) is a multidisciplinary biomedical research public centre that promotes and develops innovative biomedical research. It was created in 1994 to support the research of University Hospital Vall d’Hebron (HUVH), the leading hospital complex in Catalonia, and one of the largest in Spain with more than 1300 beds and 7000 employees. VHIR aims at undertaking high quality and competitive research and teaching at the international level in the field of health and life sciences. Involved in the areas of basic, clinical, epidemiological, economic and healthcare. VHIR is devoted to transfer the knowledge allowing a better diagnosis, treatment and prevention of the health problems of our society. VHIR has 58 biomedicine independent research groups. It also counts on experimented team in charge of supporting all technical, financial, management issues as well as reporting activities related to the research projects.

Role and Commitment of key persons (including supervisors)

Both participant researchers, Dr. Maria del Mar Mañú Pereira (MMP) and Victoria Gutiérrez Valle (VGV) are based in Centre for Rare Diseases, University Hospital Vall d'Hebron-Vall d'Hebron Research Institute since May 2018. Hospital Vall d’Hebron is the only healthcare provider recognized as full member of ERN-EuroBloodNet in Spain and gathers part of the network’s coordination team: MMP as Scientific Director and VGV as IT and dissemination manager. The Centre for Rare Diseases is devoted to improve the healthcare provided to patients affected by Rare Diseases in different transversal areas, being one of them the Red Blood Cell pathology, focussed on the development of new diagnosis strategies for Rare Anaemias, and on the insights in the physiopathological pathways leading to haemoglobin syndromes, thalassemias and sickle cell disorders, membranopathies, enzymopathies and defects in erythropoiesis. Moreover, studies of correlation genotype-phenotype, clinical variation, biomarkers for diagnosis and prognosis of rare anaemias and genetic epidemiology are carried out.

Key Research Facilities, Infrastructure and Equipment

Researchers have access to the VHIR’s Core Facilities (VHIR-CF) that provide specific cutting-edge solutions for every need during the process of biomedical research. Specifically, this proposal will benefit from: Lab Animal Service, High Technology Unit, Statistics and Bioinformatics Unit, Clinical Trials Pharmacy, Clinical Research Support Unit, Biobank, and the Academic Research Organization. VHIR is also a member of EATRIS and ECRIN that allow easy access to their European infrastructure. In addition, VHIR has an experimented team in of supporting all technical, financial, management issues as well as reporting activities related to the research projects. HUVH is one of the largest Hospitals, not only in Catalonia, but also in Spain, and represents by far the Spanish Hospital with the largest population on rare anaemias. Especially for the interest of our investigations, HUVH is the Catalan reference centre for patients affected by rare anaemias, and the reference centre for follow-up of patients affected by SCD diagnosed through neonatal screening. HUVH provides a close relation with the clinicians, both paediatricians and haematologists, to get samples from routine visits of patients i.e. for SCD patients every 2-3 months and acute events. In addition, as an added value, HUVH is a full member of the ERN-EuroBloodNet, where part of the coordination team is based, including Maria del Mar Mañú (Scientific director) and Victoria Gutiérrez (IT and dissemination manager).

Status of Research Premises

Independent academic research premises.

Previous Involvement in Research and Training Programmes

• Combined molecular microscopy for therapy and personalized medication in rare anaemias treatments (COMMITMENT) FP-7 European Comission. Lars Kaestner. 10/2013- 09/2018. • New e-health tools for the European Reference Network of expert centres in rare anaemias (e-ENERCA) Executive Agency for Health and Consumers (EAHC) Promote health (HP-2008). Joan Lluis Vives Corrons. 09/2013-11/2016. • Creation of a catalan network for the diagnosis and clinical management of rare anaemias due to major haemoglobinopathies Fundació La Marató TV3 “La Marató 2009-Malàlties minoritàries”. Joan Lluis Vives Corrons. 12/2010-09/2014.

Current Involvement in Research and Training Programmes

• PI in EU-ITN RELEVANCE • Scientific Director of ERN-EuroBloodNet • Supervisor of 2 PhD students, one in the frame of RELEVANCE ITN • Connecting EuroBloodNet. Innovation and Networks Executive Agency (INEA) -Connecting Europe Facility (CEF). Pierre Fenaux. 10/2018-09/2019 • Rare Aanemia Disorders European Epidemiological Platform (RADeep). Béatrice Gulbis. 07/2017-02/2022. • European Reference Network on Rare Hematological Diseases (ERN-EuroBloodNet) 3rd Health Program. Pierre Fenaux. 03/2017-02/2022. • Regulation of red cell life-span, erythropoiesis, survival, senescence and clearance (RELEVANCE) Marie Skłodowska-Curie Actions - Innovative Training Networks (ITN). Anna Bogdanova. 09/2015-08/2019.

Relevant Publications and/ or Research/ Innovation Product

• Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, Mañu-Pereira MDM, Kalfa TA, Pissard S, Segovia JC, van Beers E, Gallagher PG, Rees DC, van Wijk R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases. Am J Hematol. 2019 Jan;94(1):149-161. doi: 10.1002/ajh.25325. Epub 2018 Nov 28. • Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. Llaudet-Planas E, Vives-Corrons JL, Rizzuto V, Gómez-Ramírez P, Sevilla Navarro J, Coll Sibina MT, García-Bernal M, Ruiz Llobet A, Badell I, Velasco-Puyó P, Dapena JL, Mañú-Pereira MM. Int J Lab Hematol. 2018 Feb;40(1):94-102. doi: 10.1111/ijlh.12746. Epub 2017 Oct 10. • Heterogeneity of G6PD deficiency prevalence in Mozambique: a school-based cross-sectional survey in three different regions. Galatas B, Mabote L, Simone W, Matambisso G, Nhamussua L, Mañú-Pereira MD, Menéndez C, Saute F, Macete E, Bassat Q, Alonso P, Aide P. Malar J. 2017 Jan 19;16(1):36. doi: 10.1186/s12936-016-1674-y. • Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A>T; Lys>Ile). A cause of rare anemia misdiagnosis. Mañú Pereira MD, Ropero P, Loureiro C, Vives Corrons JL. Am J Hematol. 2017 Apr;92(4):E38-E40. doi: 10.1002/ajh.24649. Epub 2017 Feb 13. No abstract available. • Red cell pyruvate kinase deficiency in Spain: A study of 15 cases. Montllor L, Mañú-Pereira MD, Llaudet-Planas E, Gómez Ramírez P, Sevilla Navarro J, Vives-Corrons JL. Med Clin (Barc). 2017 Jan 6;148(1):23-27. doi: 10.1016/j.medcli.2016.10.004. Epub 2016 Nov 19. English, Spanish.