# Single telomere length analysis using DNA array and FISH: a low-cost and accurate test for telomere-associated diseases

> **NIH NIH R41** · TELOHEALTHDX LLC · 2024 · $448,961

## Abstract

ABSTRACT
 Telomere-associated diseases, including telomere biology disorders (TBD), are prevalent
among the aging population. TBD represent a group of most common premature aging syndromes,
including dyskeratosis congenita (DC), aplastic anemia, and idiopathic pulmonary fibrosis (IPF), etc.
The diagnosis of TBDs can be challenge due to the variable, complex, and time-dependent nature of
clinical manifestations. Genetic testing may be inconclusive because a significant portion of patients
do not have an identifiable genetic cause. Telomere length testing has been shown to aid in DC
diagnostics. However, a low-cost and accurate telomere length test is not available as a first line
diagnostic or screening tool for the early detection of TBDs and other telomere-associated diseases.
 We propose to develop a DNA array and fluorescent in situ hybridization (FISH)-based method
to measure the absolute lengths of individual telomeres. The goal is to develop a low-cost, accurate,
and high-throughput telomere test that uses a small amount of DNA, thus the test will be applicable to
any cell/tissue type which DNA can be extracted from. This next-generation telomere test not only
measures average telomere length, but also telomere length distribution, thus providing a detailed
telomere length profile for a patient. We anticipate that additional details in telomere length
distribution will enhance the diagnostic accuracy of telomere-associated diseases because it is well
documented that accumulation of critically short telomeres during aging or by environmental assaults
is responsible for the telomere-driven pathologies. In this phase I study, we propose the following two
aims: 1) validate the optimized experimental conditions for accuracy in the measurement of telomere
length; 2) determine the impact of DNA extraction methods on telomere length measurement.
 Phase I aims will lay the foundation for the Phase II study which will establish a new, accurate,
low-cost, and high-throughput telomere length assay and generate a marketable telomere diagnostic
test to enhance the diagnosis and management of telomere-associated diseases. Given the rapid
increase in the aging population and the relevance of telomere biology in human aging-related
diseases, we anticipate the potential market for the test will be large.

## Key facts

- **NIH application ID:** 10816046
- **Project number:** 1R41AG085701-01
- **Recipient organization:** TELOHEALTHDX LLC
- **Principal Investigator:** Ying Wang
- **Activity code:** R41 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $448,961
- **Award type:** 1
- **Project period:** 2024-09-25 → 2026-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10816046

## Citation

> US National Institutes of Health, RePORTER application 10816046, Single telomere length analysis using DNA array and FISH: a low-cost and accurate test for telomere-associated diseases (1R41AG085701-01). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10816046. Licensed CC0.

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