Session 4: Opportunities of Synthetic Data Generation in Rare Haematological Diseases

Speakers: María del Mar Mañú Pereira, Eleonora Iascone​, Raffaella Colombatti

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 Coordinator 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.

Dr. Raffaella Colombatti is pediatric hematologist oncologist at the Pediatric Hematology-Oncology Unit of the Azienda Ospedaliera-Universita di Padova, in Padova, Italy. Her main field of interest are Red Cell Disorders, especially Sickle Cell Disease. She has contributed in creating the Sickle Cell Veneto Region Reference Center in Padova and is clinical coordinator of the local Universal Newborn Screening Program; she is in charge of the General Hematology- Anemias clinic. In the past years she has been involved in clinical research on SCD vasculopathy, cerebral and neurocognitive abnormalities and brain function. Dr. Colombatti is also interested in Child Health in Africa and is leading several projects in Guinea Bissau, West Africa, in the field of Hematology and Infectious Disorders.

Eleonora Iascone is a Data Scientist at the AI Centre of Humanitas Research Hospital, where her main focus is on synthetic data generation and validation for healthcare applications. She is actively involved in EU-funded research projects SYNTHEMA and SYNTHIA on synthetic data, contributing to the development of validation frameworks to assess synthetic data quality for clinical purposes. With a background in Biomedical Engineering and experience spanning both technical consulting and academic research in the healthcare sector, she has developed a strong interest in Machine Learning and AI methods, which she applies to investigate innovative tools and methodologies to advance biomedical research and improve clinical workflows.