The Research Group in Iron Metabolism: Regulation and Diseases is a senior interdisciplinary group with extensive experience in translational medicine in the field of iron metabolism and in the study of other hereditary haematological diseases. The purpose of the group is to increase knowledge of iron metabolism, its regulation and associated diseases, and to promote the diagnosis of hereditary haematological diseases. To this end, the spin-off BLOODGENETICS SL was created in November 2016. The group has also contributed to the implementation of telemedicine tools to facilitate the diagnosis and management of patients with inherited haematological diseases such as congenital dyserythropoietic anaemia (CODYSAN) and the diagnosis and management of patients with hyperferritinemia (HIGHFERRITIN). We have also contributed to the publication of two clinical guidelines.
Our group is an enthusiastic and dynamic laboratory that applies cutting-edge technology to translational medicine in haematology, RNA biology, genetics and iron metabolism, using molecular and cellular biology techniques and working in vitro, in silico, with tissue cultures, in vivo (mouse models) and with patient samples. We have a wide network of hospitals and national and international collaborators with which to study human samples (paediatric and adult).
The group’s scientific activity has been supported by numerous prestigious international publications, participation in congresses and our capacity for research training.
The group’s main challenges are:
- The in silico, in vitro and in vivo study of new mRNAs regulated by IRPs (iron regulatory proteins, IRP1 and IRP2).
- The discovery of new diseases related to hereditary haematological diseases and iron metabolism diseases through sequencing studies with t-NGS panels and WES / WGS studies.
- To improve the diagnosis and treatment of hereditary haematological diseases and diseases related to iron metabolism, through the transfer of technology to the company BLOODGENETICS SL (spin-off co-founded by Dr M Sanchez).
- To promote new therapeutic strategies in hereditary haematological diseases and diseases related to iron metabolism
- To improve the management and medical diagnosis of hereditary haematological diseases and diseases related to iron metabolism, through the creation of telemedicine tools such as the online applications HIGHFERRITIN and CODYSAN and through the publication of clinical guidelines.
- To increase the social and medical awareness of inherited haematological diseases and iron-related diseases by supporting and promoting patient associations such as APU, AEH, EFAPH and ADISCON.
• Dr Mayka Sánchez Fernández
- Sr. Ferran Celma Nos
- Dra. Veronica Venturi
- Dra. Xenia Ferrer Cortés
- Dr. Gonzalo Hernández Viedma
- Sra. Lidia Romero Cortadellas
- Sr. Daniel Jové Solavera
Line of research
- Research on iron metabolism and hereditary haematological diseases