Therapeutic approaches to imprinting diseases

Hela Sassi, Léa Guerrini Rousseau, Jacques Grill, Etienne Rouleau

    Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

    Abstract

    Genomic imprinting disorders are rare diseases that arise from the disruption of genetic or epigenetic mechanisms, within monoallelic expressed genes from a parental-specific allele. The main epigenetic deregulated process is the deoxyribonucleic acid methylation affecting the chromatin organization and resulting in aberrant dosages of imprinted genes. They require multidisciplinary approach. In this review, we discussed the epigenetic alterations reported in some imprinting syndromes, summarized the advances in therapeutic approaches to develop new epi-editors drugs in order to avoid symptomatic treatments. These promising strategies are attractive but their administration during early development is important to counter and the realistic applicability is still the major concern. Genomic imprinting disorders have a family psychological impact and point the urge to promote science researches and start in the near feature, efficiently clinical trials, in the framework of international collaborations that bring together these small numbers of patients around the world.

    Original languageEnglish
    Title of host publicationEpigenetics in Human Disease, Third Edition
    PublisherElsevier
    Pages1077-1112
    Number of pages36
    ISBN (Electronic)9780443218118
    ISBN (Print)9780443218125
    DOIs
    Publication statusPublished - 1 Jan 2023

    Keywords

    • Angelman syndrome
    • Beckwith-Wiedemann syndrome
    • CRISPR/Cas9
    • Epigenetic
    • Epigenome editing
    • Genomic imprinting
    • Prader-Willi syndrome
    • Silver-Russell syndrome

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