Global Pediatrics (Mar 2024)

New therapeutic modalities for rare diseases

  • Fatih S. Ezgu

DOI
https://doi.org/10.1016/j.gpeds.2024.100134
Journal volume & issue
Vol. 7
p. 100134

Abstract

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Genetic Diseases affect about 2 % to 3 % of all live births. It has been reported that genetic disorders can account for up to 22 % of infant deaths. Despite this significant effort to create new therapies, treatment is available only for about 5 % of these diseases due to undiscovered etiology or rapid progression to the point of no return. Efforts for new and effective etiology-targeted treatment methods for rare genetic disorders have significantly increased in recent years. Gene-targeted novel treatments such as gene replacement therapy and gene editing, mainly gene-targeted, have significant potential to be the primary treatment modalities in the future.

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