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Nucleic Acid-Based Diagnostics for Infectious Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 September 2024 | Viewed by 2080

Special Issue Editor


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Guest Editor
Medical Technology Research Institute, Anglia Ruskin University, Chelmsford CM1 1SQ, UK
Interests: qPCR; RT-qPCR; colorectal cancer; molecular staging; clostridium difficile; MRSA; aspergillus
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Nucleic acid-based diagnostics are pivotal at the crossroads of molecular biology and healthcare, enabling the identification of infectious diseases. Over the last few years, complementary technologies such as digital PCR (dPCR) and isothermal amplification methods have been introduced to complement traditional quantitative PCR (qPCR). Innovations encompass integrated microfluidic platforms, refined sample extraction, improved enzymes, creative primer designs, and multiplexing, thus enhancing speed and reliability. Bioinformatics and artificial intelligence augment accurate data analysis and results interpretation.

The COVID-19 pandemic has highlighted issues around sensitivity, specificity, and low viral loads, underscoring the complexities in diagnostic interpretation. Yet, amidst challenges like climate change and antibiotic resistance, nucleic acid amplification-based diagnostics (NAAT) continue to evolve with adaptability, sensitivity, and growing accessibility. However, as the field progresses, cautious results interpretation and transparent communication remain crucial to ensure the responsible use of these powerful tools.

This Special Issue aims to provide a broad overview across the molecular diagnostic landscape, with a special emphasis on the intersection of qPCR, dPCR, isothermal amplification methods, and emerging trends in infectious disease diagnostics. By exploring the advances, challenges, and potential applications, this Special Issue strives to contribute to the understanding and effective utilisation of these technologies in the context of healthcare and disease management.

Prof. Dr. Stephen Bustin
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (2 papers)

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Research

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19 pages, 3864 KiB  
Article
FlashPCR: Revolutionising qPCR by Accelerating Amplification through Low ∆T Protocols
by Stephen A. Bustin, Sara Kirvell, Tania Nolan and Gregory L. Shipley
Int. J. Mol. Sci. 2024, 25(5), 2773; https://doi.org/10.3390/ijms25052773 - 28 Feb 2024
Viewed by 779
Abstract
Versatility, sensitivity, and accuracy have made the real-time polymerase chain reaction (qPCR) a crucial tool for research, as well as diagnostic applications. However, for point-of-care (PoC) use, traditional qPCR faces two main challenges: long run times mean results are not available for half [...] Read more.
Versatility, sensitivity, and accuracy have made the real-time polymerase chain reaction (qPCR) a crucial tool for research, as well as diagnostic applications. However, for point-of-care (PoC) use, traditional qPCR faces two main challenges: long run times mean results are not available for half an hour or more, and the requisite high-temperature denaturation requires more robust and power-demanding instrumentation. This study addresses both issues and revises primer and probe designs, modified buffers, and low ∆T protocols which, together, speed up qPCR on conventional qPCR instruments and will allow for the development of robust, point-of-care devices. Our approach, called “FlashPCR”, uses a protocol involving a 15-second denaturation at 79 °C, followed by repeated cycling for 1 s at 79 °C and 71 °C, together with high Tm primers and specific but simple buffers. It also allows for efficient reverse transcription as part of a one-step RT-qPCR protocol, making it universally applicable for both rapid research and diagnostic applications. Full article
(This article belongs to the Special Issue Nucleic Acid-Based Diagnostics for Infectious Diseases)
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Review

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32 pages, 1277 KiB  
Review
Enhancing Clinical Utility: Utilization of International Standards and Guidelines for Metagenomic Sequencing in Infectious Disease Diagnosis
by Chau-Ming Kan, Hin Fung Tsang, Xiao Meng Pei, Simon Siu Man Ng, Aldrin Kay-Yuen Yim, Allen Chi-Shing Yu and Sze Chuen Cesar Wong
Int. J. Mol. Sci. 2024, 25(6), 3333; https://doi.org/10.3390/ijms25063333 - 15 Mar 2024
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Abstract
Metagenomic sequencing has emerged as a transformative tool in infectious disease diagnosis, offering a comprehensive and unbiased approach to pathogen detection. Leveraging international standards and guidelines is essential for ensuring the quality and reliability of metagenomic sequencing in clinical practice. This review explores [...] Read more.
Metagenomic sequencing has emerged as a transformative tool in infectious disease diagnosis, offering a comprehensive and unbiased approach to pathogen detection. Leveraging international standards and guidelines is essential for ensuring the quality and reliability of metagenomic sequencing in clinical practice. This review explores the implications of international standards and guidelines for the application of metagenomic sequencing in infectious disease diagnosis. By adhering to established standards, such as those outlined by regulatory bodies and expert consensus, healthcare providers can enhance the accuracy and clinical utility of metagenomic sequencing. The integration of international standards and guidelines into metagenomic sequencing workflows can streamline diagnostic processes, improve pathogen identification, and optimize patient care. Strategies in implementing these standards for infectious disease diagnosis using metagenomic sequencing are discussed, highlighting the importance of standardized approaches in advancing precision infectious disease diagnosis initiatives. Full article
(This article belongs to the Special Issue Nucleic Acid-Based Diagnostics for Infectious Diseases)
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