The project “Advances in Diagnosis and Therapy for Rare Hereditary Haematological Diseases” (ARETHA), has received one of the financial grants for Knowledge Generation Projects 2021 awarded by the Ministry of Science and Innovation, within the framework of the state programme to promote scientific and technical research and its transfer to society.

Haematological diseases comprise a wide range of very heterogeneous diseases that affect the blood by unknown mechanisms for the most part, making it difficult to diagnose and treat the iron overload that accompanies this disease. The research team led by Dr Mayka Sánchez has contributed significantly to identifying these rare diseases and developing new treatments that improve the quality of life of people who suffer from them.

“Having this these funds will enable us to work to find new cases and discover new mutations that will help us improve the clinical classification of these conditions, as well as new relationships of the iron protein IRP/IRE regulatory system on regulating the genes responsible for important processes in our body,” Sánchez explained. Identification of these key genes for the pathophysiology of the disease will contribute to the development of new tools to define personalised therapeutic strategies.

The Vall d’Hebron Hospital (Barcelona), the Hospital Clínic (Barcelona), Teresa Moretó Fundation (Barcelona), Catalan Institute of Oncology (ICO) Badalona (Barcelona), La Paz Hospital   (Madrid), the Sant Pau Hospital  (Barcelona) and the Blood and Tissue Bank of Barcelona are also participating in the project, as well as the biomedical company BloodGenetics and patient associations such as the Association of Relatives and Patients with Congenital Dyserythropoietic Anemia (ADISCON) and the Pablo Ugarte Association ( APU).