Precision Medicine in Beta-Thalassemia and Sickle-Cell Disease: Markers, Diagnosis and Therapy

Dear Colleagues,

In beta−thalassemias, a large variety of mutations of the beta-globin gene or its regulatory regions cause the absence or reduced synthesis of beta-globin chains. In sickle-cell disease (SCD), the beta-globin gene defect is a single nucleotide mutation (GAG to GTG) resulting in substitution of glutamic acid with valine at position 6. These hematological hereditary pathologies are associated with morbidity and mortality and need novel approaches for treatment, patient stratification, and therapeutic protocols. In recent years novel promising studies have become available in the field of identification of novel markers, development of innovative diagnostic protocols, and application of novel therapeutic strategies to clinical trials.

For instance, the first trials on gene therapy have been recently reported, based on the use of a new generation of lentiviral vectors; induction of fetal hemoglobin using hydroxyurea is now firmly established as a strategy to ameliorate the clinical parameters of these diseases. These achievements are based on the development of in vitro and in vivo experimental systems, and on the design on novel drugs (including DNA-based molecules) and suitable delivery systems for personalized therapy. Future developments are expected in the field of gene editing and stem cell therapy, including induced pluripotent stem cells (iPS) derived from thalassemia patients. Diagnostic approaches are expected to bring important achievements in the field of non-invasive prenatal diagnosis.

We are particularly interested in review and research manuscripts that report the relevance of novel approaches for gene therapy, gene editing and improved diagnosis, prognosis, and management of beta-thalassemias. Reviews that summarize the results of clinical trials are welcome as well. Case reports will be considered. Moreover, papers dealing with methodological achievements leading to the development of novel therapeutic and diagnostic protocols facilitating personalized therapy in precision medicine would be of great interest.

Main topics include, but are not limited to:

• Patients stratification
• OMICS analyses
• Transcriptional regulation of globin genes
• Gene therapy for thalassemia and SCD
• Gene editing
• Read-through approaches for stop-codon mutations
• Induction of Fetal Hemoglobin
• Genetic modifiers
• Stem Cells
• Development of iPS
• MicroRNAs
• Long non-coding RNAs
• In vitro experimental model systems
• In vivo experimental model systems, including transgenic animals
• Molecular diagnosis
• Prenatal diagnosis
• Case reports
• Clinical trials

Dr. Roberto Gambari
Dr. Marina Kleanthous
Dr. Eitan Fibach
Guest Editors

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• Thalassemia
• Sickle-cell anemia
• Hematological disorders
• Theranostics
• Patients stratification
• OMICS
• Transcriptional regulation
• Gene therapy
• Gene editing
• Read-through approaches
• Induction of fetal hemoglobin
• MicroRNAs
• Prenatal diagnosis
• Transgenic animals
• Clinical trials