Elena Martínez-Balsalobre , Jean-Hugues Guervilly , Jenny van Asbeck-van der Wijst , Ana Belén Pérez-Oliva , Christophe Lachaud
{"title":"超越目前范可尼贫血的治疗:基于细胞和基因的方法的进展提供了什么?","authors":"Elena Martínez-Balsalobre , Jean-Hugues Guervilly , Jenny van Asbeck-van der Wijst , Ana Belén Pérez-Oliva , Christophe Lachaud","doi":"10.1016/j.blre.2023.101094","DOIUrl":null,"url":null,"abstract":"<div><p><span>Fanconi anemia<span><span><span> (FA) is a rare inherited disorder that mainly affects the bone marrow. This condition causes decreased production of all types of blood cells. FA is caused by a defective repair of DNA interstrand crosslinks and to date, mutations in over 20 genes have been linked to the disease. Advances in science and </span>molecular biology have provided new insight between FA </span>gene mutations<span> and the severity of clinical manifestations. Here, we will highlight the current and promising therapeutic options for this rare disease. The current standard treatment for FA patients is </span></span></span>hematopoietic stem cell<span><span><span> transplantation, a treatment associated to exposure to radiation or chemotherapy, immunological complications, plus opportunistic infections from prolonged immune incompetence or increased risk of morbidity. New arising treatments include gene addition therapy, </span>genome editing<span> using CRISPR-Cas9 nuclease, and hematopoietic stem cell generation from </span></span>induced pluripotent stem cells. Finally, we will also discuss the revolutionary developments in mRNA therapeutics as an opportunity for this disease.</span></p></div>","PeriodicalId":56139,"journal":{"name":"Blood Reviews","volume":null,"pages":null},"PeriodicalIF":6.9000,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Beyond current treatment of Fanconi Anemia: What do advances in cell and gene-based approaches offer?\",\"authors\":\"Elena Martínez-Balsalobre , Jean-Hugues Guervilly , Jenny van Asbeck-van der Wijst , Ana Belén Pérez-Oliva , Christophe Lachaud\",\"doi\":\"10.1016/j.blre.2023.101094\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span>Fanconi anemia<span><span><span> (FA) is a rare inherited disorder that mainly affects the bone marrow. This condition causes decreased production of all types of blood cells. FA is caused by a defective repair of DNA interstrand crosslinks and to date, mutations in over 20 genes have been linked to the disease. Advances in science and </span>molecular biology have provided new insight between FA </span>gene mutations<span> and the severity of clinical manifestations. Here, we will highlight the current and promising therapeutic options for this rare disease. The current standard treatment for FA patients is </span></span></span>hematopoietic stem cell<span><span><span> transplantation, a treatment associated to exposure to radiation or chemotherapy, immunological complications, plus opportunistic infections from prolonged immune incompetence or increased risk of morbidity. New arising treatments include gene addition therapy, </span>genome editing<span> using CRISPR-Cas9 nuclease, and hematopoietic stem cell generation from </span></span>induced pluripotent stem cells. Finally, we will also discuss the revolutionary developments in mRNA therapeutics as an opportunity for this disease.</span></p></div>\",\"PeriodicalId\":56139,\"journal\":{\"name\":\"Blood Reviews\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":6.9000,\"publicationDate\":\"2023-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Blood Reviews\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0268960X23000553\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Blood Reviews","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0268960X23000553","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Beyond current treatment of Fanconi Anemia: What do advances in cell and gene-based approaches offer?
Fanconi anemia (FA) is a rare inherited disorder that mainly affects the bone marrow. This condition causes decreased production of all types of blood cells. FA is caused by a defective repair of DNA interstrand crosslinks and to date, mutations in over 20 genes have been linked to the disease. Advances in science and molecular biology have provided new insight between FA gene mutations and the severity of clinical manifestations. Here, we will highlight the current and promising therapeutic options for this rare disease. The current standard treatment for FA patients is hematopoietic stem cell transplantation, a treatment associated to exposure to radiation or chemotherapy, immunological complications, plus opportunistic infections from prolonged immune incompetence or increased risk of morbidity. New arising treatments include gene addition therapy, genome editing using CRISPR-Cas9 nuclease, and hematopoietic stem cell generation from induced pluripotent stem cells. Finally, we will also discuss the revolutionary developments in mRNA therapeutics as an opportunity for this disease.
期刊介绍:
Blood Reviews, a highly regarded international journal, serves as a vital information hub, offering comprehensive evaluations of clinical practices and research insights from esteemed experts. Specially commissioned, peer-reviewed articles authored by leading researchers and practitioners ensure extensive global coverage across all sub-specialties of hematology.