Towards a Cure for Diamond-Blackfan Anemia: Views on Gene Therapy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F24%3A00601094" target="_blank" >RIV/68378050:_____/24:00601094 - isvavai.cz</a>
Result on the web
<a href="https://www.mdpi.com/2073-4409/13/11/920" target="_blank" >https://www.mdpi.com/2073-4409/13/11/920</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/cells13110920" target="_blank" >10.3390/cells13110920</a>
Alternative languages
Result language
angličtina
Original language name
Towards a Cure for Diamond-Blackfan Anemia: Views on Gene Therapy
Original language description
Diamond-Blackfan anemia (DBA) is a rare genetic disorder affecting the bone marrow's ability to produce red blood cells, leading to severe anemia and various physical abnormalities. Approximately 75% of DBA cases involve heterozygous mutations in ribosomal protein (RP) genes, classifying it as a ribosomopathy, with RPS19 being the most frequently mutated gene. Non-RP mutations, such as in GATA1, have also been identified. Current treatments include glucocorticosteroids, blood transfusions, and hematopoietic stem cell transplantation (HSCT), with HSCT being the only curative option, albeit with challenges like donor availability and immunological complications. Gene therapy, particularly using lentiviral vectors and CRISPR/Cas9 technology, emerges as a promising alternative. This review explores the potential of gene therapy, focusing on lentiviral vectors and CRISPR/Cas9 technology in combination with non-integrating lentiviral vectors, as a curative solution for DBA. It highlights the transformative advancements in the treatment landscape of DBA, offering hope for individuals affected by this condition.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
<a href="/en/project/LM2023036" target="_blank" >LM2023036: Czech Centre for Phenogenomics</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Cells
ISSN
2073-4409
e-ISSN
2073-4409
Volume of the periodical
13
Issue of the periodical within the volume
11
Country of publishing house
CH - SWITZERLAND
Number of pages
16
Pages from-to
920
UT code for WoS article
001245800100001
EID of the result in the Scopus database
2-s2.0-85195835701