ENROL: Networking on European Registries in Rare Hematological Disorders
ENROL: Networking on European Registries in Rare Hematological Disorders
Speakers: María del Mar Mañú Pereira, Loris Brunetta
Dr Maria del Mar Mañú-Pereira is the head of rare anemia disorders research laboratory in translation research group on cancer and blood disorders in children at Vall d'Hebrón Research Intitute - University hospital Vall d'Hebrón in Barcelona (Spain). She is also the Scientific director of the European Reference Network on Rare Hematological Disorders ERN-EuroBloodNet, in charge of the definition and implementation of the network scientific strategy and the relations with the European structures for data sharing and the EC-Joint Research Centre, and the coordinator of its European platform of patients' registries on rare hematological disorders, ENROL, and of Rare Anaemia Disorders European Platform, RADeep. She also leads Work Package 3 on patient centered research in the European Rare Disease Research Coordination and Support Action consortium, ERICA. Dr Maria del Mar Mañú-Pereira graduated in Biomedical sciences and specialised in Human Genetics. She obtained her PhD in 2009, with a thesis on epidemiological and molecular genetics studies in the newborn population for rare anemia disorders. In the field of translational research, Dr Mañú-Pereira is focused on development of innovative methodologies; X-omics, red blood cell rheology and mechanical properties characterization, microfluidics and organ-on-chip for integrative diagnosis and personalize medicine. In this context, she is principal investigator of European Commission funded projects EVIDENCE, Erythrocytes Properties And Viability In Dependence Of Flow And Extra-Cellular Environment, GENOMED4ALL, Genomics and Personalized Medicine for all though Artificial Intelligence in Haematological Diseases through a European federated learning platform and SYNTHEMA, Synthetic generation of hematological data over federated computing frameworks to further enhance diagnostic capacity, assess treatment options and predict outcomes in rare hematological diseases.
Loris Brunetta, was founding member of Comitato Ligure Giovani Thalassemici, in 1983, renamed Associazione Ligure Thalassemici in 2000. Founding member of Thalassemia International Federation (TIF) in 1987 and Board member since 2011. Member of T-PAG (Thalassemia-Patients Advocacy Group) of TIF. Appointed as representative for the European Affairs of the Federation, serving as a translator into Italian in patients' friendly language of many TIF's publications. Reviewer and translator into Italian of the
e-learning patients' platform called "Thal-eCourse" implemented by the Thalassaemia International Federation as an educational tool for patients. Founding member of UNITED (Italian Federation of Thalassemia, Sickle Cell Disease and Rare Anaemias Associations) in 2012. Board member since 2016. Member of Scientific and Technical Board of Italian Foundation 'L.Giambrone' for the cure of Thalassemia, since 2015. Coordinator of the Italian Associations Advocacy Council (IAAC) from Fondazione Italiana 'L.Giambrone' for the cure of Thalassemia, since 2017.
Since July 2018, appointed by the European Commission as patients' representative at Committee for Orphan Medicinal Products (COMP) of the European Medicine Agency (EMA).
Elected by Eurordis (European Rare Disease Organization) as ePAG (European Patients Advisory Group) in the context of ERNs (European Reference Networks) since 2016. Member of the Strategic and Scientific Board at EuroBloodNet, network for rare haematological diseases and coordinator of the TFA on Research and Clinical Trials. Also, appointed on the ePAGs Steering Committee at Eurordis and Eurordis representative.
