Blood Disorder Genetics and Thalassemia Department
Biomedical and Translational Informatics
(Investigators Petros Kountouris, Coralea Stephanou)
Development of patient registries for rare hematological diseases at the national and European level, including:
Leadership in the international curation of hematological disease variants and databases, including by:
- Development and coordination of the world-leading ITHANET portal for hemoglobinopathies and related disorders, and associated genotype, phenotype, epidemiology and health-policy assets (see here)
- Coordination of the dedicated ClinGen-recognized Hemoglobinopathy Variant Curation Expert Panel (see here)
- Coordination of the INHERENT network for identification of disease modifiers (see here)
- Coordination of database FAIRification efforts (see here)
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