A β-Thalassemia Cell Biobank: Updates, Further Validation in Genetic and Therapeutic Research and Opportunities During (and After) the COVID-19 Pandemic.

IF 3 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Journal of Clinical Medicine Pub Date : 2025-01-06 DOI:10.3390/jcm14010289
Roberto Gambari, Maria Rita Gamberini, Lucia Carmela Cosenza, Cristina Zuccato, Alessia Finotti
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Abstract

Background: Cellular biobanks are of great interest for performing studies finalized in the development of personalized approaches for genetic diseases, including β-thalassemia and sickle cell disease (SCD), important diseases affecting the hematopoietic system. These inherited genetic diseases are characterized by a global distribution and the need for intensive health care. The aim of this report is to present an update on the composition of a cellular Thal-Biobank, to describe its utilization since 2016, to present data on its application in studies on fetal hemoglobin induction and on gene editing, and to discuss its employment as a "unique tool" during and after the COVID-19 pandemic. Methods: The methods were as follows: freezing, cryopreservation, long-term storage, and thawing of erythroid precursor cells from β-thalassemia patients; fetal hemoglobin (HbF) induction; CRISPR-Cas9 gene editing; HPLC analysis of the hemoglobin pattern. Results: The updated version of the Thal-Biobank is a cellular repository constituted of 990 cryovials from 221 β-thalassemia patients; the phenotype (pattern of hemoglobin production) is maintained after long-term storage; fetal hemoglobin induction and CRISPR-Cas9 gene editing can be performed using biobanked cells. In representative experiments using an isoxazole derivative as HbF inducer, the HbF increased from 13.36% to more than 60%. Furthermore, in CRIPR/Cas9 gene editing, de novo production of HbA was obtained (42.7% with respect to the trace amounts found in untreated cells). Conclusions: The implemented Thal-Biobank was developed before the COVID-19 outbreak and should be considered a tool of great interest for researchers working on β-thalassemia, with the aim of developing innovative therapeutic protocols and verifying the impact of the COVID-19 pandemic on erythroid precursor cells.

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来源期刊
Journal of Clinical Medicine
Journal of Clinical Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
5.70
自引率
7.70%
发文量
6468
审稿时长
16.32 days
期刊介绍: Journal of Clinical Medicine (ISSN 2077-0383), is an international scientific open access journal, providing a platform for advances in health care/clinical practices, the study of direct observation of patients and general medical research. This multi-disciplinary journal is aimed at a wide audience of medical researchers and healthcare professionals. Unique features of this journal: manuscripts regarding original research and ideas will be particularly welcomed.JCM also accepts reviews, communications, and short notes. There is no limit to publication length: our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible.
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