Kariofyllis Karamperis

University of Patras

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George P. Patrinos

Erasmus MC

Christina Mitropoulou

Golden Helix Foundation

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Μαρία Σκώκου

University of Patras

Athanassios Vozikis

University of Piraeus

Stavroula Siamoglou

University of Patras

Maria Koromina

Icahn School of Medicine at Mount Sinai

Yiannis Manoussopoulos

National and Kapodistrian University of Athens

Manousos E. Kambouris

University of Patras

Konstantinos Mitropoulos

General Hospital of Nikea

Margarita-Ioanna Koufaki

University of Patras

Cooperative Institutions

University of Patras

Istituti di Ricovero e Cura a Carattere Scientifico

Centro di Riferimento Oncologico

Instituto de Investigación Biosanitaria de Granada

National and Kapodistrian University of Athens

University of Ljubljana

Stellenbosch University

Medical University of Vienna

Hospital Universitario Virgen de las Nieves

National Cancer Institute

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Genomic variants in members of the Krüppel-like factor gene family are associated with disease severity and hydroxyurea treatment efficacy in β-hemoglobinopathies patients

Pharmacogenomics (2019)

Απόστολος Στρατόπουλος Αλεξάνδρα Κολλιοπούλου Kariofyllis Karamperis Anne John Kyriaki Kydonopoulou

Aim: β-Type hemoglobinopathies are characterized by vast phenotypic diversity as far as disease severity is concerned, while differences have also been observed in hydroxyurea (HU) treatment efficacy. These differences are partly attributed to the residual expression of fetal hemoglobin (HbF) in adulthood. The Krüppel-like family of transcription factors (KLFs) are a set of zinc finger DNA-binding proteins which play a major role in HbF regulation. Here, we explored the possible association of variants in KLF gene family members with response to HU treatment efficacy and disease severity in β-hemoglobinopathies patients. Materials & methods: Six tag single nucleotide polymorphisms, located in four KLF genes, namely KLF3, KLF4, KLF9 and KLF10, were analyzed in 110 β-thalassemia major patients (TDT), 18 nontransfusion dependent β-thalassemia patients (NTDT), 82 sickle cell disease/β-thalassemia compound heterozygous patients and 85 healthy individuals as controls. Results: Our findings show that a KLF4 genomic variant (rs2236599) is associated with HU treatment efficacy in sickle cell disease/β-thalassemia compound heterozygous patients and two KLF10 genomic variants (rs980112, rs3191333) are associated with persistent HbF levels in NTDT patients. Conclusion: Our findings provide evidence that genomic variants located in KLF10 gene may be considered as potential prognostic biomarkers of β-thalassemia clinical severity and an additional variant in KLF4 gene as a pharmacogenomic biomarker, predicting response to HU treatment.

KLF4

Pharmacogenomics

10.2217/pgs-2019-0063

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Genome-based therapeutic interventions for β-type hemoglobinopathies

Human Genomics (2021)

Kariofyllis Karamperis Maria T. Tsoumpeli Fotios Kounelis Maria Koromina Christina Mitropoulou

For decades, various strategies have been proposed to solve the enigma of hemoglobinopathies, especially severe cases. However, most of them seem to be lagging in terms of effectiveness and safety. So far, the most prevalent and promising treatment options for patients with β-types hemoglobinopathies, among others, predominantly include drug treatment and gene therapy. Despite the significant improvements of such interventions to the patient's quality of life, a variable response has been demonstrated among different groups of patients and populations. This is essentially due to the complexity of the disease and other genetic factors. In recent years, a more in-depth understanding of the molecular basis of the β-type hemoglobinopathies has led to significant upgrades to the current technologies, as well as the addition of new ones attempting to elucidate these barriers. Therefore, the purpose of this article is to shed light on pharmacogenomics, gene addition, and genome editing technologies, and consequently, their potential use as direct and indirect genome-based interventions, in different strategies, referring to drug and gene therapy. Furthermore, all the latest progress, updates, and scientific achievements for patients with β-type hemoglobinopathies will be described in detail.

Pharmacogenomics

Human genetics

10.1186/s40246-021-00329-0

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Citations (14)

Economic evaluation in psychiatric pharmacogenomics: a systematic review

The Pharmacogenomics Journal (2021)

Kariofyllis Karamperis Maria Koromina Panagiotis Papantoniou Μαρία Σκώκου Filippos Kanellakis

Pharmacogenomics

10.1038/s41397-021-00249-1

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Defining Genetic-Testing Delivery and Promotional Strategies for Personalized Medicine

Elsevier eBooks (2019)

Christina Mitropoulou Despina Giannouri Kariofyllis Karamperis Sam Wadge George P. Patrinos

Pace

Personalized Medicine

Genetic Engineering

10.1016/b978-0-12-813695-9.00019-4

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Citations (1)

Toward High-Throughput Fungal Electroculturomics and New Omics Methodologies in 21st-Century Microbiology and Ecology

OMICS A Journal of Integrative Biology (2020)

Andreas Stathoulias Aphroditi Milioni Stavroula Kritikou Aikaterini Karmakolia Stavroula Goudoudaki

Modern microbiology and drug development are in a watershed moment with the advent of electroceuticals. In addition to genomics, electrical impulses in an organism are believed to contribute to tissue and cellular plasticity. Hence, electroceuticals or bioelectronics offers the promise to identify innovative approaches to treat human diseases. However, applications toward electromicrobiology are still limited and rare, despite the high potential to innovate the fields of both microbiology and therapeutics. For example, electric modalities for manipulating microbial growth are highly sustainable; can be combined with biopharmaceuticals, probiotics, and pharmacobiotics; and, thus, are well poised for use in medicine, public health, and ecology and diverse industries. We report here the introduction of a new research framework and technology platform for electroculturomics, by coupling standard solid-state mycological cultures with conductive treatment using a conformité Européene (CE-)-certified medical ionophoresis device. We share our experience with a diverse range of fungi that have been treated with the electroculturomics approach reported herein. We suggest that this line of inquiry can be extended to electrotranscriptomics and electrometabolomics by deploying electroculturomics in tandem with multi-omics approaches in the future. This article makes a specific contribution to fungal microbiology, and a broader contribution to advance the theory and practice of the field of electroculturomics emerging in 21st-century microbiology and ecology research.

10.1089/omi.2020.0012

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A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

The Lancet (2023)

Jesse J. Swen Cathelijne H. van der Wouden Lisanne E. N. Manson H. Abdullah-Koolmees Kathrin Blagec

Crossover study

Drug reaction

10.1016/s0140-6736(22)01841-4

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Citations (303)

Economic evaluation of pharmacogenomic-guided antiplatelet treatment in Spanish patients suffering from acute coronary syndrome participating in the U-PGx PREPARE study

Human Genomics (2023)

Margarita-Ioanna Koufaki Vasileios Fragoulakis Xando Díaz-Villamarín Kariofyllis Karamperis Athanassios Vozikis

Cardiovascular diseases and especially Acute Coronary Syndrome (ACS) constitute a major health issue impacting millions of patients worldwide. Being a leading cause of death and hospital admissions in many European countries including Spain, it accounts for enormous amounts of healthcare expenditures for its management. Clopidogrel is one of the oldest antiplatelet medications used as standard of care in ACS.In this study, we performed an economic evaluation study to estimate whether a genome-guided clopidogrel treatment is cost-effective compared to conventional one in a large cohort of 243 individuals of Spanish origin suffering from ACS and treated with clopidogrel. Data were derived from the U-PGx PREPARE clinical trial. Effectiveness was measured as survival of individuals while study data on safety and efficacy, as well as on resource utilization associated with each adverse drug reaction were used to measure costs to treat these adverse drug reactions. A generalized linear regression model was used to estimate cost differences for both study groups.Based on our findings, PGx-guided treatment group is cost-effective. PGx-guided treatment demonstrated to have 50% less hospital admissions, reduced emergency visits and almost 13% less ADRs compared to the non-PGx approach with mean QALY 1.07 (95% CI, 1.04-1.10) versus 1.06 (95% CI, 1.03-1.09) for the control group, while life years for both groups were 1.24 (95% CI, 1.20-1.26) and 1.23 (95% CI, 1.19-1.26), respectively. The mean total cost of PGx-guided treatment was 50% less expensive than conventional therapy with clopidogrel [€883 (95% UI, €316-€1582), compared to €1,755 (95% UI, €765-€2949)].These findings suggest that PGx-guided clopidogrel treatment represents a cost-effective option for patients suffering from ACS in the Spanish healthcare setting.

Pharmacogenomics

Pharmacoepidemiology

10.1186/s40246-023-00495-3

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Citations (19)

Genetic Testing

Elsevier eBooks (2019)

Kariofyllis Karamperis Sam Wadge Maria Koromina George P. Patrinos

Personalized Medicine

Allowance (engineering)

10.1016/b978-0-12-813695-9.00010-8

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