Pub Date : 2025-01-01Epub Date: 2025-01-31DOI: 10.1051/medsci/2024191
Megane Brusson, Annarita Miccio
Beta-haemoglobinopathies are severe genetic anemias caused by mutations that affect adult haemoglobin production. Many therapeutic approaches aim to reactivate the expression of the fetal hemoglobin genes. To this end, the CRISPR/Cas9 system has recently been used to genetically modify patients' hematopoietic stem/progenitor cells ex vivo and reactivate fetal hemoglobin expression in their erythroid progeny. More than 70 patients with severe β-thalassemia and sickle cell disease have been treated with the Casgevy® therapy. Most have achieved a significant improvement of clinical phenotype, with high editing efficiency in hematopoietic cells associated with normal or near normal hemoglobin levels. While the long-term safety and efficacy of this powerful approach still need to be evaluated, new strategies are being developed to further improve therapeutic outcomes, reduce potential genotoxicity and lower the costs of therapy.
{"title":"[A CRISPR/Cas approach to β-haemoglobinopathies].","authors":"Megane Brusson, Annarita Miccio","doi":"10.1051/medsci/2024191","DOIUrl":"https://doi.org/10.1051/medsci/2024191","url":null,"abstract":"<p><p>Beta-haemoglobinopathies are severe genetic anemias caused by mutations that affect adult haemoglobin production. Many therapeutic approaches aim to reactivate the expression of the fetal hemoglobin genes. To this end, the CRISPR/Cas9 system has recently been used to genetically modify patients' hematopoietic stem/progenitor cells ex vivo and reactivate fetal hemoglobin expression in their erythroid progeny. More than 70 patients with severe β-thalassemia and sickle cell disease have been treated with the Casgevy® therapy. Most have achieved a significant improvement of clinical phenotype, with high editing efficiency in hematopoietic cells associated with normal or near normal hemoglobin levels. While the long-term safety and efficacy of this powerful approach still need to be evaluated, new strategies are being developed to further improve therapeutic outcomes, reduce potential genotoxicity and lower the costs of therapy.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 1","pages":"33-39"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-31DOI: 10.1051/medsci/2024208
Anna Salvetti
{"title":"[Women and biomedical research: is the glass ceiling finally cracking?]","authors":"Anna Salvetti","doi":"10.1051/medsci/2024208","DOIUrl":"https://doi.org/10.1051/medsci/2024208","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 1","pages":"7-8"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-31DOI: 10.1051/medsci/2024202
Moussa Diomande, Pauline Gandolfo, Jai R Hari, Espérance Laggiard, Houda Djenidi, Caroline Costedoat, Émeline Verna
{"title":"[A method for the future: dental tartar as a marker of drug consumption].","authors":"Moussa Diomande, Pauline Gandolfo, Jai R Hari, Espérance Laggiard, Houda Djenidi, Caroline Costedoat, Émeline Verna","doi":"10.1051/medsci/2024202","DOIUrl":"https://doi.org/10.1051/medsci/2024202","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 1","pages":"100-102"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-31DOI: 10.1051/medsci/2024184
Rita El Haddad, Adeline Renuy, Marie Zins, Guillaume Airagnes
{"title":"[Proportion of at-risk alcohol consumers according to the new French guidelines: Cross-sectional weighted analyses from the CONSTANCES cohort].","authors":"Rita El Haddad, Adeline Renuy, Marie Zins, Guillaume Airagnes","doi":"10.1051/medsci/2024184","DOIUrl":"https://doi.org/10.1051/medsci/2024184","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 1","pages":"18-22"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Uncovering the secrets of mummified tissues: Fruit juices as a new approach to fingerprint retrieval].","authors":"Juliette Bondanelli, Mélissa Duchamps, Clara Ehrmann, Anaïs Fauquembergue, Sasha Gehin, Émeline Verna, Caroline Costedoat","doi":"10.1051/medsci/2024198","DOIUrl":"https://doi.org/10.1051/medsci/2024198","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 1","pages":"87-89"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-31DOI: 10.1051/medsci/2024190
Florent Mazel
The gut microbiome plays an important role in animal physiology and development. While the molecular, cellular and ecological mechanisms that determine its diversity and impact on animal health are beginning to unfold, we still know relatively little about its evolutionary history. Fundamental questions such as "Is the microbiota evolving and at what race?", "What are its origins?", "What are the consequences of microbiota evolution for human health?" or "Did we co-evolve with our gut bacteria?" are only beginning to be explored. In the short term (from a few days to a few years, or microevolution), gut microbes can evolve and adapt very rapidly within an individual in responses to environmental changes, such as diet shifts, which can affect human health. On the longer term (ten to millions of years, or macroevolution), evolution within individuals is counterbalanced by the transfer of microbes from other people, so that human evolution is decoupled from the evolution of most gut microbes over many generations. This suggests that, while gut microbes have probably evolved rapidly within humans, most of them have a history of exchange between host populations over millennia. Whether the evolution of the microbiota over the last hundreds of thousands of years has facilitated human adaptations remains an open question and an exciting avenue for future research.
{"title":"[Did humans co-evolve with the gut microbiota?]","authors":"Florent Mazel","doi":"10.1051/medsci/2024190","DOIUrl":"https://doi.org/10.1051/medsci/2024190","url":null,"abstract":"<p><p>The gut microbiome plays an important role in animal physiology and development. While the molecular, cellular and ecological mechanisms that determine its diversity and impact on animal health are beginning to unfold, we still know relatively little about its evolutionary history. Fundamental questions such as \"Is the microbiota evolving and at what race?\", \"What are its origins?\", \"What are the consequences of microbiota evolution for human health?\" or \"Did we co-evolve with our gut bacteria?\" are only beginning to be explored. In the short term (from a few days to a few years, or microevolution), gut microbes can evolve and adapt very rapidly within an individual in responses to environmental changes, such as diet shifts, which can affect human health. On the longer term (ten to millions of years, or macroevolution), evolution within individuals is counterbalanced by the transfer of microbes from other people, so that human evolution is decoupled from the evolution of most gut microbes over many generations. This suggests that, while gut microbes have probably evolved rapidly within humans, most of them have a history of exchange between host populations over millennia. Whether the evolution of the microbiota over the last hundreds of thousands of years has facilitated human adaptations remains an open question and an exciting avenue for future research.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 1","pages":"53-61"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-31DOI: 10.1051/medsci/2024207
Philippe Desprès, Dominique Salmon, Laurent Bellec, André Cabié, Marie-Lise Gougeon
{"title":"[Corrigendum to: The dengue vaccine: a major scientific challenge and a public health issue].","authors":"Philippe Desprès, Dominique Salmon, Laurent Bellec, André Cabié, Marie-Lise Gougeon","doi":"10.1051/medsci/2024207","DOIUrl":"https://doi.org/10.1051/medsci/2024207","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"41 1","pages":"77"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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