Unmet Need
Telomeres are repetitive sequences found at the end of eukaryotic chromosomes that play a key role in eukaryotic genomic stability. In humans, telomeres naturally shorten with time. Genetic disruption to telomere biology can cause dyskeratosis congenita and pulmonary fibrosis, while telomere length contributes to complex diseases such as cancer and aging. [1,2] Current methods to measure telomere length focus on average length, as there is no standard assay to quantify the length of individual telomeres. [3,4] These methods have limited reproducibility, bias toward short telomere length, and are relatively low-throughput. Therefore, there is a need to develop a standard and accurate technique to quantify telomere length.
Technology Overview
Researchers at Johns Hopkins have developed a standardized assay for accurately quantifying telomere length. The methodology relies upon enrichment and subsequent sequencing of telomeres to quantify length. This approach is simple, high-throughput, scalable, and is appropriate for research and/or diagnostic use.
Stage of Development
Assay has been validated based on comparison to telomere length measured by Southern blot. Protocol is being optimized for multiplex applications.
Publication
Sholes SL, Karimian K, Gershman A, Kelly TJ, Timp W, Greider CW. Chromosome-specific telomere lengths and the minimal functional telomere revealed by nanopore sequencing. Genome Res. 2022 Apr;32(4):616-628. doi: 10.1101/gr.275868.121. Epub 2021 Oct 26. PMID: 34702734; PMCID: PMC8997346.
