# Smartphone-based detection of cancer mutant alleles in biological samples

> **NIH NIH R21** · UNIVERSITY OF PENNSYLVANIA · 2020 · $203,125

## Abstract

ABSTRACT
Liquid biopsy is emerging as a powerful, cost effective tool for genotyping cancer cells, individualizing therapy
to match a growing arsenal of drugs with cancer genetics, and monitoring genetic shifts in cancer cells in
nearly real time. Liquid biopsy has the potential of significantly improving treatment outcomes and reducing
costs by enabling selection of effective drugs and detection of the presence and evolution of drug-resistance.
The detection of mutant alleles in bio samples, such as blood and urine often requires a “needle in a haystack”
approach since excess wild-type (WT) DNA exhausts essential reagents during polymerase amplification and
masks mutation alleles' signals. In developed countries, cancer genotyping is carried out with sophisticated,
expensive equipment such as digital PCR (ddPCR) and next generation sequencers, is laborious, and requires
well-trained technicians. In low and middle income countries, such capabilities are either non-existent or
limited to a few central laboratories that lack the capacity to meet the needs of a large and growing population
of cancer patients, and are often located great distance from the patient. To address this critical need, an
interdisciplinary team of US and Chinese investigators proposes an inexpensive, point-of-care smartphone-
based system for detecting rare mutant alleles in body fluids. The proposed system builds on our prior work
with minimally instrumented and un-instrumented molecular diagnostics. Our system accepts a raw sample,
such as whole blood, processes the sample, and provides test results. Our system will include a sample
enrichment step that utilizes DNA-guided cleaving enzymes of the Argonaute family to digest wild type (WT)
alleles while sparing the mutant alleles of interest. This will be followed with a loop mediated isothermal
amplification (LAMP) that utilizes peptide nucleic acid (PNA) clamp to selectively amplify mutant alleles, but not
WT-alleles. Amplicons will be detected with bioluminescent reporters and a smartphone camera. A custom
smartphone application will analyze the recorded signal; report test results; and, in the future, transmit these
results to the patient's doctor and records and, in de-identified form, to the cloud for spatiotemporal
surveillance, allowing public health officials identify hotspots. Our preliminary data indicates that our approach
has high likelihood of success. Our program will also build capacity in China. We will initiate a new program
on mobile diagnostics at the Beijing University of Chemical Technology (BUCT), catalyze collaborations
between Chinese cancer researchers and engineers, train Chinese students and researchers in novel
diagnostic assays and point of care devices, and establish the foundation to enable sustainability of this
research program in China after the conclusion of this R21 research.

## Key facts

- **NIH application ID:** 9985223
- **Project number:** 5R21TW011496-02
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Haim H Bau
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $203,125
- **Award type:** 5
- **Project period:** 2019-08-01 → 2024-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9985223

## Citation

> US National Institutes of Health, RePORTER application 9985223, Smartphone-based detection of cancer mutant alleles in biological samples (5R21TW011496-02). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/9985223. Licensed CC0.

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