Research Topic

Genetics and Genomics of Red Blood Cells

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The next-generation era has provided important insights into the molecular mechanisms of normal erythrocyte production and homeostasis, and of related human diseases. Indeed, the widespread use of new technologies has modified the approach to diagnosis, research, and therapy for red blood cell ...

The next-generation era has provided important insights into the molecular mechanisms of normal erythrocyte production and homeostasis, and of related human diseases. Indeed, the widespread use of new technologies has modified the approach to diagnosis, research, and therapy for red blood cell disorders.
The importance and the advantages of next-generation technologies are easily understandable. However, despite the widespread employment of these tools in clinical practice, some considerations on their limitations and/or disadvantages should be done. Whether on one side a major limitation of next-generation sequencing (NGS) genome screening remains in the data processing steps, on the other the off-target effects of genome editing must be accurately profiled and controlled when applied in gene therapy.

From the diagnostic perspective, genetic testing has become the frontline system for the differential diagnosis of patients affected by hereditary anemias. There are several approaches to genetic testing and the choice for each of them depends on phenotyping, genetic heterogeneity, and gene size. Single-gene testing can be still suggested for patients with complete phenotyping. However, current approaches to genetic analysis include next-generation sequencing, mainly using custom-targeted panels.
From the research perspective, the use of genomic applications allowed identifying a lot of new causative genes associated to red blood cell disorders. Moreover, the development of techniques for functional genomics have enabled high-throughput analysis of chromatin nuclear organization, the identification of topologically associated domains, and therefore the analysis of regulatory landscape of cells during erythroid differentiation.
From the therapeutic perspective, gene therapy and the use of genome editing technologies represent the current and the future for red blood cell disorders treatment. Gene therapy protocols have been already developed and introduced in clinical practice for a few disorders, such as ╬▓-thalassemia and hemoglobinopathies, while they are in preclinical phase for other disorders, such as Diamond Blackfan anemia and red cell enzyme disorders. To date, genome editing has been widely employed for gene function studies, therapeutic targets discovery and for the development of disease models. However, the current challenge for genome editing is to develop therapeutic protocols to modify the erythroid progenitor cells.

The objective of this Research Topic is to improve the knowledge of the novel molecular methods and the forefront techniques in the field of genetics and genomics of red blood cells. The specific aim is to improve our understanding of red blood cell physiology and pathology, focusing on rare hereditary anemias, diagnostic approaches, epigenetics, functional genomics, gene therapy and genome editing, generation of cellular and animal models for red blood cell diseases, and gene expression profiling of erythroid cells.
The Research Topic includes Original Research, Methods, Reviews and Perspectives.


Keywords: Next-generation sequencing, Red blood cell disorders, epigenomics, gene editing and gene therapy, functional genomics, genetic diagnosis


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