Beyond current treatment of Fanconi Anemia: What do advances in cell and gene-based approaches offer?

Elena, Martínez-Balsalobre; Jean-Hugues, Guervilly; Jenny, van Asbeck-van der Wijst; Belen, Pérez-Oliva Ana; Lachaud, Christophe

doi:10.1016/j.blre.2023.101094

Cited by 4 publications

(1 citation statement)

References 94 publications

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“…FA represents the most prevalent inherited form of BMF, with an incidence ranging from one to five cases per million, and a carrier frequency between 1 in 200 and 1 in 300. It arises from mutations in at least 20 distinct genes responsible for DNA damage repair, leading to genomic instability [ 6 , 7 ]. Clinically, FA is characterized by reduced blood cell counts, developmental anomalies, and an elevated cancer risk.…”

Section: Rare Anemias Due To Bone Marrow Failurementioning

confidence: 99%

Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment

Vives Corrons

2024

JCM

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Background—This review provides a comprehensive overview of rare anemias, emphasizing their hereditary and acquired causes, diagnostic advancements, and evolving treatment strategies. It outlines the significance of rare anemias within public health, historical challenges in recognition and treatment, and the role of European initiatives like ENERCA and EuroBloodNet in advancing care. Content—This document discusses diagnostic technologies like next-generation sequencing and the impact of artificial intelligence, alongside the promising avenues of gene therapy, targeted drug treatments, and stem cell transplantation. It underscores the importance of a patient-tailored approach, advances in diagnostic tools, and the necessity for continued research, patient advocacy, and international collaboration to improve outcomes for individuals with rare anemias.

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Section: Rare Anemias Due To Bone Marrow Failurementioning

confidence: 99%

Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment

Vives Corrons

2024

JCM

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Recent advances in hematopoietic gene therapy for genetic disorders

Galy,

Dewannieux

2023

Archives de Pédiatrie

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Research progress on the fanconi anemia signaling pathway in non-obstructive azoospermia

Xu,

Zhang,

Wang

et al. 2024

Front. Endocrinol.

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Non-obstructive azoospermia (NOA) is a disease characterized by spermatogenesis failure and comprises phenotypes such as hypospermatogenesis, mature arrest, and Sertoli cell-only syndrome. Studies have shown that FA cross-linked anemia (FA) pathway is closely related to the occurrence of NOA. There are FA gene mutations in male NOA patients, which cause significant damage to male germ cells. The FA pathway is activated in the presence of DNA interstrand cross-links; the key step in activating this pathway is the mono-ubiquitination of the FANCD2-FANCI complex, and the activation of the FA pathway can repair DNA damage such as DNA double-strand breaks. Therefore, we believe that the FA pathway affects germ cells during DNA damage repair, resulting in minimal or even disappearance of mature sperm in males. This review summarizes the regulatory mechanisms of FA-related genes in male azoospermia, with the aim of providing a theoretical reference for clinical research and exploration of related genes.

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Beyond current treatment of Fanconi Anemia: What do advances in cell and gene-based approaches offer?

Cited by 4 publications

References 94 publications

Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment

Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment

Recent advances in hematopoietic gene therapy for genetic disorders

Research progress on the fanconi anemia signaling pathway in non-obstructive azoospermia

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