Advanced Diagnostic Approaches to Congenital Bone Marrow Failure (BMF) Syndromes

Speakers: Thierry Leblanc, Carlo Dufour, Lydie Da Costa

Webinar 1: Advanced Diagnostic Approaches to Congenital Bone Marrow Failure (BMF) Syndromes

Chairs: Prof. Régis Peffault de Latour

Date: 5^th May 2025, 12:30 - 13:30 (CEST)

Content of the webinar:

1. Introduction to Congenital Bone Marrow Failure (BMF) Syndromes - Prof. Thierry Leblanc (Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré)

2. Diagnostic Challenges in BMF - Prof. Carlo Dufour (IRCCS Institute Giannina Gaslini - Genoa)

3. Application of Next-Generation Sequencing (NGS) in BMF - Prof. Lidye Da Costa (Assistance Publique-Hôpitaux de Paris, Hôpital Kremlin-Bicêtre and Assistance Publique-Hôpitaux de Paris, Hôpital Paul Brousse) 

Dr Thierry LEBLANC is a pediatrician and hematologist, associate professor of pediatrics at Université Paris-Cité, and head of the pediatric site of the national reference center for constitutional and acquired bone marrow aplasia (which includes Blackfan-Diamond anemia syndrome), as well as the reference center for autoimmune cytopenias in children. His current practice is dominated by the management of patients with non-malignant hematological disorders. After 20 years at Saint-Louis Hospital, he now works at Robert-Debré Hospital, while maintaining a consultation at Saint-Louis, where he sees adult patients with rare diseases. He is attached to the INSERM U1342 unit at the Saint-Louis Research Institute.

Prof Carlo DUFOUR works in G.Gaslini Research Children's Hospital, Genova, Italy, the largest, multi-specialist pediatric hospital of the country, where he chairs the Hemo-Onco- HSCT Pole and the Hematology Unit where have seat the national Registry of Neutropenia, the national Registry of the Alps and related disorders and the national Data Base of Fanconi Anemia. He founded the Marrow Failure Syndromes Study Group within the Italian Pediatric Hemato-Oncology Association (AIEOP). He is the author or co-author of over 200 international publications and of various hematology textbooks and textbook chapters. He acts as a reviewer for top ranking international journals including New England Journal of Medicine, Journal of Clinical Oncology, Leukemia, Clinical Immunology and Blood. He serves as an expert evaluator for different institutions including the French Registry for Rare Diseases, the Fanconi Anemia Research Fund INC (US), the Leukemia and Lymphoma Research Foundation (UK), the American Society of Hematology Education Program. He acted as the chairman of the Working Party of the Severe Aplastic Anemia (WPSAA) and as a Board member of the European Society for Blood and Marrow Transplantation (EBMT). He currently serves as the chairman of the Scientific Working Group on Granulocyte and Constitutional Marrow Failure Disorders of the European Hematology Association (EHA). Within EHA he is a member of the SWG Unit, of the Education Committee and of the Guidelines Committee. In 2015 he received by the Fanconi Anemia Research Fund. INC (FARF) the discovery award for participating in the identification of gene FANCT. Since December 2019 is a member of the Scientific Committee of the American Society of Hematology.

In December 2019 he was awarded for scientific contribution in Fanconi Anemia by the Spanish "Fundacion en la Anemia de Fanconi". In August 2020 has been awarded by the EBMT with the Van Bekkum award, a recognition reserved for best scientific communication of the year, as Co-PI of the prospective randomized trial RACE (Comparison of classical IST ± Eltombopag) in Severe Aplastic Anemia.

Prof Lydie DA COSTA, MD, PhD. Professor (PU-PH) of the Paris-Saclay University and the AP-HP; Director of the Hematology Diagnostic laboratory, Bicêtre hospital, Le Kremlin-Bicêtre; Member of the INSERM U1770, Gustave Roussy Institute, Villejuif (O. Bernard/V. Penard-Lacronique); Member of the laboratory of excellence for red cell - Index GR-Ex; EHA, SFH ERN-EurobloodNet member. She has been a long-time front-runner in the DBA field since her PhD in 1999 in Mohandas Narla's lab (ASH elected previous president) at LBNL, Berkeley, Ca, USA. She works in DBA diagnosis (phenotype and genotype by NGS, CGH/SNP array, WES, WGS methods), DBA and ribosomopathies teaching, and DBA research ever since. She is in charge of the French DBA registry with Pr. Thierry Leblanc. She collects the DNA, EBV cell line banking from the DBA patients (CRB). She is also known in red cell and erythropoiesis fields (red cell membrane disorders, congenital dyserythropoiesis).