Welcome to another season of EHA Unplugged. In our first episode of 2024, listen to Prof Carlo Dufour, Chairperson of the Paediatric Hemato-Oncology department of G. Gaslini Children’s Hospital in Genova (Italy), as he discusses how classical IBMFs (such as Fanconi Anemia, Diamond-Blackfan Anemia, Shwachman-Diamond Syndrome, and the telomere disorders) are now being joined by a large number of other diseases included in this category, thanks to the increasing precision of diagnostic genetic tools. 

Prof Dufour explains further how crucial precise genetic-based diagnosis is in discriminating between true acquired and constitutional bone marrow failure disorders in order to properly determine the best line of treatment for these rare diseases and to establish a monitoring plan to prevent the occurrence of secondary malignancies. 

Tune in to find out how IBMFS patients may benefit from precision medicine and a therapy tailored to their genetic constitution. 

This is a series of podcasts covering precision medicine across various disorders, more podcasts will be available in the future. Stay tuned!  

Guest: Prof Carlo Dufour, G. Gaslini Children’s Hospital in Genova (Italy)

Host: Isabel Olivera-Martinez, PhD, European Hematology Association (EHA)

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To go further: Miano M, Grossi A, Dell'Orso G, et al. Genetic screening of children with marrow failure. The role of primary Immunodeficiencies. Am J Hematol. 2021; 96(9): 1077–1086. https://doi.org/10.1002/ajh.26242  

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