GRC- Hereditary HematoLogy and Iron Metabolism

The scientific focus of the Hereditary Hematology and Iron Metabolism – HELAINE group is research on genetics (including gene therapy). This includes molecular and cellular biology of rare diseases in hematology and paediatric hematology, and the implementation of bioinformatics and telemedicine tools in the treatment of rare and iron-related hereditary diseases.

The research has significantly contributed to the field of hereditary hematology and that related to iron metabolism and related diseases. Advances have allowed the publication of new cases and mutations, the discovery of new rare human genetic anaemias and new genes of iron metabolism. This has improved clinical classification guidelines with the aim of improving the clinical management and treatment of patients.

The research group is also working with the innovative Bloodgenetics SL company, developing new tools and identifying new genes for commercial business.

Currently, the team of researchers is working on the development of a gene therapy for CDA type 2 through an EU-funded project, three projects with national competitive grants, a nanomedicine project (NANOANEMIA) and nine clinical trials.