Molecular Genetics and Genomics of Red Blood Cells
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 1611
Special Issue Editor
2. Research Centre for Anthropology and Health (CIAS), Department of Life Sciences, University of Coimbra, 3004-531 Coimbra, Portugal
Interests: red blood cell disorders; hemoglobinopathies; congenital erythrocytosis
Special Issue Information
Dear Colleagues,
NGS (Next Generation Sequencing) technologies have provided important insights into the molecular mechanisms of normal erythropoiesis and homeostasis, as well as related human diseases. Indeed, the widespread availability of new technologies has transformed the way red blood cell disorders are diagnosed, studied, and treated.
From a diagnostic standpoint, genetic testing has become the advanced system for the differential diagnosis of patients with red blood cell disorders such as inherited anemia. From a research perspective, the use of genomic applications has allowed the identification of many new causative genes associated with red blood cell disorders. From a therapeutic perspective, the use of gene therapy and genome editing technologies represents the present and future of red blood cell disease treatment. Gene therapy options have been developed and introduced into clinical practice for diseases such as beta-thalassemia and hemoglobinopathies, while others are in the preclinical stages, such as Diamond Blackfan anemia and erythrocyte enzyme disorders.
This Special Issue in IJMS on “Molecular Genetics and Genomics of Red Blood Cells” will provide an overview of the novel molecular methods and the forefront techniques in the field of genetics and genomics of red blood cells.
Prof. Dr. Celeste Bento
Guest Editor
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Keywords
- genetic diagnosis
- red blood cell disorders
- inherited anemia
- erythrocytosis
- erythropoiesis
- gene therapy
- genome editing
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