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Disruptive Innovations in the Discovery and Translation of Precision Medicine
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Disruptive Innovations in the Discovery and Translation of Precision Medicine

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: closed (31 March 2023) | Viewed by 6403

Special Issue Editor

Dr. Andrew Rowland

E-Mail Website
Guest Editor
College of Medicine and Public Health, Flinders University, Bedford Park, SA 5042, Australia
Interests: precision medicine approaches; cancer; anti-cancer medicine

Special Issue Information

Dear Colleagues, 

Recent breakthroughs in technologies for the isolation and analysis of high-sensitivity biomarkers in the blood, combined with innovations in computational modelling and machine learning, have presented a golden opportunity to resolve knowledge gaps regarding the impact of life stage, organ interplay, and disease states on the interaction between medicines and the body at a molecular and physiological level. 

These disruptive innovations present basic researchers and clinicians with unique opportunities to efficiently identify and translate novel biological and molecular insights into changes in clinical practice that achieve a paradigm-shifting impact on human health. This Special Issue of the International Journal of Molecular Sciences focusses on novel applications of disruptive technologies to enhance the personalisation of medical interventions. Manuscripts should describe novel technologies for the isolation or characterisation of biological markers from human biospecimens, or novel technologies and methodologies for the analysis and interpretation of human clinical trial data.

Dr. Andrew Rowland
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.

Keywords

  • precision medicine
  • machine learning
  • biomarkers
  • artificial intelligence
  • extracellular vesicles
  • liquid biopsy
  • proteomics
  • transcriptomics

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

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13 pages, 1189 KiB  
Article
A Physiologically Based Pharmacokinetic Model to Predict the Impact of Metabolic Changes Associated with Metabolic Associated Fatty Liver Disease on Drug Exposure
by Elise M. Newman and Andrew Rowland
Int. J. Mol. Sci. 2022, 23(19), 11751; https://doi.org/10.3390/ijms231911751 - 4 Oct 2022
Cited by 8 | Viewed by 3125
Abstract
Metabolic associated fatty liver disease (MAFLD) is the most common chronic liver disease, with an estimated prevalence of between 20 and 30% worldwide. Observational data supported by in vitro and pre-clinical animal models of MAFLD suggest meaningful differences in drug disposition in MAFLD [...] Read more.
Metabolic associated fatty liver disease (MAFLD) is the most common chronic liver disease, with an estimated prevalence of between 20 and 30% worldwide. Observational data supported by in vitro and pre-clinical animal models of MAFLD suggest meaningful differences in drug disposition in MAFLD patients. This study aimed to build a physiologically based pharmacokinetic (PBPK) model reflecting observed changes in physiological and molecular parameters relevant to drug disposition that are associated with MAFLD. A comprehensive literature review and meta-analysis was conducted to identify all studies describing in vivo physiological changes along with in vitro and pre-clinical model changes in CYP 1A2, 2C9, 2C19, 2D6 and 3A4 protein abundance associated with MAFLD. A MAFLD population profile was constructed in Simcyp (version 19.1) by adapting demographic and physiological covariates from the Sim-Healthy population profile based on a meta-analysis of observed data from the published literature. Simulations demonstrated that single dose and steady state area under the plasma concentration time curve (AUC) for caffeine, clozapine, omeprazole, metoprolol, dextromethorphan and midazolam, but not s-warfarin or rosiglitazone, were increased by >20% in the MAFLD population compared to the healthy control population. These findings indicate that MAFLD patients are likely to be experience meaningfully higher exposure to drugs that are primarily metabolized by CYP 1A2, 2C19, 2D6 and 3A4, but not CYP2C9. Closer monitoring of MAFLD patients using drugs primarily cleared by CYP 1A2, 2C19 and 3A4 is warranted as reduced metabolic activity and increased drug exposure are likely to result in an increased incidence of toxicity in this population. Full article
(This article belongs to the Special Issue Disruptive Innovations in the Discovery and Translation of Precision Medicine)
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Review

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18 pages, 331 KiB  
Review
Exploring Epigenetic Modifications as Potential Biomarkers and Therapeutic Targets in Glaucoma
by Emanuele Tonti, Roberto Dell’Omo, Mariaelena Filippelli, Leopoldo Spadea, Carlo Salati, Caterina Gagliano, Mutali Musa and Marco Zeppieri
Int. J. Mol. Sci. 2024, 25(5), 2822; https://doi.org/10.3390/ijms25052822 - 29 Feb 2024
Cited by 8 | Viewed by 2782
Abstract
Glaucoma, a complex and multifactorial neurodegenerative disorder, is a leading cause of irreversible blindness worldwide. Despite significant advancements in our understanding of its pathogenesis and management, early diagnosis and effective treatment of glaucoma remain major clinical challenges. Epigenetic modifications, encompassing deoxyribonucleic acid (DNA) [...] Read more.
Glaucoma, a complex and multifactorial neurodegenerative disorder, is a leading cause of irreversible blindness worldwide. Despite significant advancements in our understanding of its pathogenesis and management, early diagnosis and effective treatment of glaucoma remain major clinical challenges. Epigenetic modifications, encompassing deoxyribonucleic acid (DNA) methylation, histone modifications, and non-coding RNAs, have emerged as critical regulators of gene expression and cellular processes. The aim of this comprehensive review focuses on the emerging field of epigenetics and its role in understanding the complex genetic and molecular mechanisms underlying glaucoma. The review will provide an overview of the pathophysiology of glaucoma, emphasizing the intricacies of intraocular pressure regulation, retinal ganglion cell dysfunction, and optic nerve damage. It explores how epigenetic modifications, such as DNA methylation and histone modifications, can influence gene expression, and how these mechanisms are implicated in glaucomatous neurodegeneration and contribute to glaucoma pathogenesis. The manuscript discusses evidence from both animal models and human studies, providing insights into the epigenetic alterations associated with glaucoma onset and progression. Additionally, it discusses the potential of using epigenetic modifications as diagnostic biomarkers and therapeutic targets for more personalized and targeted glaucoma treatment. Full article
(This article belongs to the Special Issue Disruptive Innovations in the Discovery and Translation of Precision Medicine)
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