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Next-Generation Sequencing (NGS) in BMF: A Paradigm Shift

Next-Generation Sequencing (NGS) in BMF: A Paradigm Shift

12/05/2025 12:30

Speakers: Roberta Russo, Kathleen Freson, Erika Massaccesi

Target: Health professionals
Subnetworks: Bone marrow failure

Webinar 2: Next-Generation Sequencing (NGS) in BMF: A Paradigm Shift

Chair: Prof. Achille Iolascon 

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

Contents of the webinar:

  1. NGS in Hypoproductive Anemias - Prof. Roberta Russo (AOU Federico II - Naples) 
  2. NGS in Platelet Production - Prof. Kathleen Freson (University Hospital Leuven)
  3. Integrating NGS in Clinical Practice - Dr. Erika Massaccesi (IRCCS Institute Giannina Gaslini - Genoa)

Roberta Russo is an Associate Professor of Medical Genetics at the University of Naples Federico II and supervisor of the Molecular Diagnostics Laboratory of Medical Genetics at the "CEINGE-Biotecnologie Avanzate Franco Salvatore" Institute. Since 2006, her primary research focus has been on the genetics of hereditary red blood cell defects, with a particular emphasis on Congenital Dyserythropoietic Anemias. Her current research is centered on identifying genetic modifiers involved in the pathogenesis of hereditary erythrocyte defects and developing genomic and phenotypic classifiers to better stratify affected individuals, with the ultimate goal of enabling personalized treatment approaches.

Kathleen Freson is Professor at KU Leuven in the department of Cardiovascular Sciences and head of the Centre for Molecular and Vascular Biology. She studied bioscience engineering with as specialty cell and gene technology. She is chair of the doctoral committee for the faculty of medicine at KULeuven. Her research is focused on omics and functional genetics studies to unravel bleeding and platelet disorders but also has an interest in the parallel between neurological disorders and platelet dysfunction. She chairs the Subcommittees of the International Society of Thrombosis and Hemostasis and is member of the ClinGen working group for Thrombosis and Hemostasis and the ASH Subcommittee on Precision Medicine.

Erika Massaccesi is a clinician in Hematology Unit of G. Gaslini Children's Hospital (Genoa, Italy), which is a national referring Centre for Bone Marrow Failure Syndromes and the headquarter of the Italian Registry of Neutropenias, of the Italian Registry of Telomeropathies, of the Italian Registry of ALPS and of the National Database of Fanconi Anemia. She is mainly focused on Bone Marrow Failure Syndromes (BMFs), expecially on Telomere Biology Disorders (TBDs), and she gained a wide experience on characterization of genetic background, geno-phenotype correlation and pathogenic mechanisms of either inherited and acquired BMFs. In May 2024, she  obtained a PhD in Paediatric Sciences discussing a research thesis on the application of Machine Learning in TBD.