A CRISPR base editing approach for the functional assessment of telomere biology disorder-related genes in human health and aging.

ABSTRACT: Telomere Biology Disorders (TBDs) are a group of rare diseases characterized by the presence of short and/or dysfunctional telomeres. They comprise a group of bone marrow failure syndromes, idiopathic pulmonary fibrosis, and liver disease, among other diseases. Genetic alterations (variants) in the genes responsible for telomere homeostasis have been linked to TBDs. Despite the number of variants already identified as pathogenic, an even more significant number must be better understood. The study of TBDs is challenging since identifying these variants is difficult due to their rareness, it is hard to predict their impact on the disease onset, and there are not enough samples to study. Most of our knowledge about pathogenic variants comes from assessing telomerase activity from patients an

SUBMITTER: Borges G 

PROVIDER: S-EPMC10998809 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature