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

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: closed (15 December 2021) | Viewed by 5087

Special Issue Editors

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Guest Editor
Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara, Italy
Interests: OMICS analyses; transcriptional regulation of globin genes; gene therapy; induction of fetal hemoglobin, microRNAs, molecular diagnosis
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Guest Editor
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics (CING), Nicosia, Cyprus
Interests: drug therapy for thalassaemia using HbF inducers; gene therapy for thalassaemia; the development of a diagnostic chip for thalassaemia; non-invasive prenatal diagnosis (NIPD) for thalassaemia; genotype /phenotype correlation studies in thalassaemia

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Guest Editor
Dept. of Hematology, Hadassah - Hebrew University Medical Center, Ein-Kerem, Jerusalem, Israel
Interests: gene therapy; induction of fetal hemoglobin; in vitro experimental model systems; molecular diagnosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

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
  • Transcriptional regulation
  • Gene therapy
  • Gene editing
  • Read-through approaches
  • Induction of fetal hemoglobin
  • MicroRNAs
  • Prenatal diagnosis
  • Transgenic animals
  • Clinical trials

Published Papers (1 paper)

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14 pages, 3238 KiB  
Large-Scale Drug Screen Identifies FDA-Approved Drugs for Repurposing in Sickle-Cell Disease
by Matthew Cannon, Hannah Phillips, Sidney Smith, Katie Williams, Lindsey Brinton, Charles Gregory, Kristina Landes, Payal Desai, John Byrd and Rosa Lapalombella
J. Clin. Med. 2020, 9(7), 2276; - 17 Jul 2020
Cited by 6 | Viewed by 4218
Sickle-cell disease (SCD) is a debilitating hematological disorder with very few approved treatment options. Therapeutic reactivation of fetal hemoglobin (HbF) is one of the most pursued methods for ameliorating the systemic manifestations of SCD. Despite this, very few pharmacological agents have advanced to [...] Read more.
Sickle-cell disease (SCD) is a debilitating hematological disorder with very few approved treatment options. Therapeutic reactivation of fetal hemoglobin (HbF) is one of the most pursued methods for ameliorating the systemic manifestations of SCD. Despite this, very few pharmacological agents have advanced to clinical trials or marketing for use. In this study, we report the development of an HbF in situ intracellular immunoblot assay coupled to a high-throughput drug screen to identify Food and Drug Administration (FDA) approved drugs that can be repurposed clinically for treatment of SCD. Using this assay we evaluated the National Institute of Health (NIH) Clinical Collection (NCC), a publicly available library of 725 small molecules, and found nine candidates that can significantly re-express HbF in erythroid cell lines as well as primary erythroblasts derived from SCD patients. Furthermore, we show the strong effects on HbF expression of these candidates to occur with minimal cytotoxicity in 7 of the 9 drugs. Given these data and their proven history of use for other indications, we hypothesize that several of these candidate drugs warrant further investigation for use in SCD. Full article
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