ERN-EuroBloodNet Webinars for Patients: Congenital Dyserythropoietic Anemia I and Congenital Dyserythropoietic Anemia II
ERN-EuroBloodNet Webinars for Patients: Congenital Dyserythropoietic Anemia I and Congenital Dyserythropoietic Anemia II
Speakers: Noemi Roy, Paola Bianchi, Roberta Russo
Dr Noémi Roy trained in medicine in Edinburgh and carried out her haematology training in London and Oxford, where she obtained her PhD. Her main interests are haemoglobinopathies and rare inherited anaemias, and in particular the genetic investigation of inherited anaemias, including whole genome sequencing. She is also involved in investigating the management of iron deficiency in diverse patient groups. She is dedicated to using patients' views to guide how research in conducted in haematology and coordinating best practice care in red cell disorders at the European level. Noémi leads quality of life studies in sickle cell disease as well as novel ways of improving compliance, patient understanding and patient pathways for high quality care.
Dr Paola Bianchi is head biologist working at Hematology Unit, Physiopathology of Anemias Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico of Milan, Italy.
Since 1993 she is involved in diagnosis and translational research on hemolytic anemias, both congenital (red cell membrane defects, erythroenzymopathies, congenital dyserythopoietic anemias) and acquired (paroxysmal nocturnal hemoglobinuria), contributing to the characterization of more than 200 erythroenymopathies, 50 cases of CDAII and many cases of red cell membrane disorders. In 1993 she received the award of Italian Society of Hematology with a research entitled "Erythrocyte pyruvate kinase hemolytic anemia: molecular study in 20 cases". Dr Paola Bianchi was trained at University of Milan and completed her post graduate specialization in Biotechnological Applications in 1996.
By NGS (whole exome sequencing, targeted NGS platforms and genomic-proteomic approach she identified new genes responsible for rare forms of hemolytic anemia. She is involved in molecular diagnosis of mieloprolopherative disorders and rare forms of congenital erythrocytosis, participating to the JakNet Italian Network. She shared National and International projects on molecular characterization and genotype-phenotype correlation (by mutagenesis and in vitro expression of recombinant mutants), and studied the epigenetic factors that might influence clinical phenotype in these disorders and in particular in Pyruvate kinase deficiency. She is involved in the PKD NHS study and member of the steering committee of the International Peak registry for PK deficiency.
Dr Paola Bianchi in member of EuroBloodNet and of the Steering Committee of RADeep registries; Member of steering Committee EHA Guidelines (Anemia and related diseases). Since 2018 she is Associate editor of Red Blood Cell Physiology (specialty section of Frontiers In Physiology, Topic editor of Frontiers in Physiology Research Topic).
Dr. Roberta Russo is a researcher in medical genetics at the University of Naples "Federico II". After the degree in Medical Biotechnologies, she attended the postgraduate residency school in Medical Genetics (2011); subsequently, she gave a Ph.D. in Genetics and Molecular Medicine (2016).
She has dealt with the study of the genetics of rare disorders, particularly hereditary anemias, since 2006. Her main interest was the study of Congenital Dyserythropoietic Anemias (CDAs), mainly CDA type II. Indeed, she contributed firsthand to the identification of the causative gene of this condition in 2009. Subsequently, she became one of the leading scientists for the genetics and epidemiology of CDAs. In 2011, she won the Young Investigator Award by the American Journal of Hematology for her study on the epidemiology of this disorder.
During her Post-Doc experience at institute "CEINGE - Advanced Biotechnologies", Naples (Italy), in the research group guided by Prof. Achille Iolascon, Roberta Russo has successfully conducted important studies on molecular genetics and pathophysiology of CDAs and other related hereditary anemias. Currently, she is a principal investigator of two projects aiming to elucidate the genetic background of patients affected by these disorders.
