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Research on iron metabolism and hereditary haematological diseases

Home/Research Lines/Research on iron metabolism and hereditary haematological diseases

Research on iron metabolism and hereditary haematological diseases

Molecular, cellular, genetic and physiopathological study of iron metabolism and other hereditary haematological diseases.

At present, the research sublines are as follow:

1. DIAGNOSIS AND GENE THERAPY IN CDA. Translational Research on Congenital Dyserythroipoietic Anemias (CDA), a rare hereditary anemia to improve its diagnostic and develop innovative therapies such as Gene Therapy for Type II CDA. Projects: NEOTEC SNEO-20191246, RETOS COLABORACION RTC2019-007074-1, EU project 894737 – ADGENTHE-CDA-H2020-MSCA-IF-2019

2. NEW GENES IN IRON METABOLISM. Basic Research on novel mRNA containing an Iron Responsive Element (IRE) and post-transcriptionally regulated by Iron Regulatory Proteins (IRPs). Project: AIRON RTI2018-101735-B-I00

3. NEW DISEASES AND NOVEL MUTATIONS IN HEREDITARY HEMATOLOGICAL DISEASES AND IRON RELATED DISEASES. Translational Research in the discovery of new human diseases and novel mutations in hereditary hematological and iron-related disorders. Project: AIRON RTI2018-101735-B-I00

4. NANOTECHNOLOGY AND HEMATOLOGICAL DISEASES. Multiplexed nanobiosensors for instant diagnosis and classification of anemia at the point of care. Project: NANOANEMIA PLEC2021-007727

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Main group objectives:

  • Improving Genetic diagnosis of iron metabolism-related diseases and other hereditary haematological diseases through the use of NGS panels in partnership with the companies BLOODGENETICS and WHOLE GENIX SL.

  • Discovery and functional characterisation of new mutations in iron metabolism-related diseases and other hereditary haematological diseases.

  • Discovery and functional characterisation of new diseases related to iron metabolism and other inherited haematological diseases through WES and WGS.

  • Development of telemedicine tools to improve the diagnosis and management of patients with inherited haematological diseases and diseases related to iron metabolism (examples of online applications developed by our group are: HIGHFERRITIN: highferritin.imppc.org and CODYSAN).

  • Discovery of new mRNAS regulated by IRPs through molecular and cellular studies in cell lines and in vitro and in vivo studies.

  • Development and improvement of bioinformatic tools for predicting mRNA elements named Iron Responsive Elements or IREs (SIREs webpage).

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