Laying the groundwork for the Biobank of Rare Malignant Neoplasms at the service of the Hellenic Network of Precision Medicine on CancerBiobanks constitute an integral part of precision medicine. They provide a repository of biospecimens that may be used to elucidate the pathophysiology, support diagnoses, and guide the treatment of diseases. The pilot biobank of rare malignant neoplasms has been established in the context of the Hellenic Network of Precision Medicine on Cancer and aims to enhance future clinical and/or research studies in Greece by collecting, processing, and storing rare malignant neoplasm samples with associated data. The biobank currently comprises 553 samples; 384 samples of hematopoietic and lymphoid tissue malignancies, 72 samples of pediatric brain tumors and 97 samples of malignant skin neoplasms. In this article, sample collections and their individual significance in clinical research are described in detail along with computational methods developed specifically for this project. A concise review of the Greek biobanking landscape is also delineated, in addition to recommended technologies, methodologies and protocols that were integrated during the creation of the biobank. This project is expected to re‑enforce current clinical and research studies, introduce advances in clinical and genetic research and potentially aid in future targeted drug discovery. It is our belief that the future of medical research is entwined with accessible, effective, and ethical biobanking and that our project will facilitate research planning in the '‑omic' era by contributing high‑quality samples along with their associated data.
Role of Histone Deacetylases in the Pathogenesis of Salivary Gland Tumors and Therapeutic Targeting OptionsMaria Manou, Dimitrios S. Kanakoglou, Theodoros Loupis et al.|International Journal of Molecular Sciences|2023 Salivary gland tumors (SGTs) comprise a rare and heterogenous category of benign/malignant neoplasms with progressively increasing knowledge of the molecular mechanisms underpinning their pathogenesis, poor prognosis, and therapeutic treatment efficacy. Emerging data are pointing toward an interplay of genetic and epigenetic factors contributing to their heterogeneity and diverse clinical phenotypes. Post-translational histone modifications such as histone acetylation/deacetylation have been shown to actively participate in the pathobiology of SGTs, further suggesting that histone deacetylating factors (HDACs), selective or pan-HDAC inhibitors (HDACis), might present effective treatment options for these neoplasms. Herein, we describe the molecular and epigenetic mechanisms underlying the pathology of the different types of SGTs, focusing on histone acetylation/deacetylation effects on gene expression as well as the progress of HDACis in SGT therapy and the current status of relevant clinical trials.
Gene–Diet Interactions in Diabetes Mellitus: Current Insights and the Potential of Personalized NutritionType 2 diabetes mellitus (T2DM) remaina significant global health challenge, with its increasing prevalence and associated complications contributing to high morbidity and economic burden. Genetic factors play a crucial role in T2DM susceptibility, yet individual responses to dietary interventions vary widely, emphasizing the importance of gene-diet (G × D) interactions. This review synthesizes the current literature on the genetic basis of T2DM and the role of G × D interactions in shaping individual responses to diet. We examine the genetics implication in T2DM risk and modulation by dietary factors, with a focus on the potential of Nutrigenetics in guiding personalized nutrition (PN) strategies. Moreover, the clinical implications of these interactions for the personalized prevention and management of T2DM are explored, highlighting the promise of tailoring dietary recommendations based on genetic profiles. Critical research gaps, including the need for diverse and longitudinal studies, the integration of multi-omic data, and the inclusion of digital health technologies in PN are discussed. Finally, future directions for the field are outlined, advocating for more inclusive, large-scale studies to optimize PN approaches for diverse populations and improve the efficacy of T2DM prevention and management. This review underscores the potential of an individualized, genetically informed dietary approach in modulating the global burden of T2DM.
Enhanced Transcriptional Signature and Expression of Histone-Modifying Enzymes in Salivary Gland TumorsSalivary gland tumors (SGTs) are rare and complex neoplasms characterized by heterogenous histology and clinical behavior as well as resistance to systemic therapy. Tumor etiology is currently under elucidation and an interplay of genetic and epigenetic changes has been proposed to contribute to tumor development. In this work, we investigated epigenetic regulators and histone-modifying factors that may alter gene expression and participate in the pathogenesis of SGT neoplasms. We performed a detailed bioinformatic analysis on a publicly available RNA-seq dataset of 94 ACC tissues supplemented with clinical data and respective controls and generated a protein–protein interaction (PPI) network of chromatin and histone modification factors. A significant upregulation of TP53 and histone-modifying enzymes SUV39H1, EZH2, PRMT1, HDAC8, and KDM5B, along with the upregulation of DNA methyltransferase DNMT3A and ubiquitin ligase UHRF1 mRNA levels, as well as a downregulation of lysine acetyltransferase KAT2B levels, were detected in ACC tissues. The protein expression of p53, SUV39H1, EZH2, and HDAC8 was further validated in SGT tissues along with their functional deposition of the repressive histone marks H3K9me3 and H3K27me3, respectively. Overall, this study is the first to detect a network of interacting proteins affecting chromatin structure and histone modifications in salivary gland tumor cells, further providing mechanistic insights in the molecular profile of SGTs that confer to altered gene expression programs.
Establishing a Digitally Enabled Healthcare Framework for Enhanced Prevention, Risk Identification, and Relief for Dementia and FrailtyGeorge Manias, Spiridon Likothanassis, Emmanouil Alexakis et al.|Journal of dementia and Alzheimer's disease|2025 During the last decade, artificial intelligence (AI) has enabled key technological innovations within the modern dementia and frailty healthcare and prevention landscape. This has boosted the impact of technology in the clinical setting, enabling earlier diagnosis with improved specificity and sensitivity, leading to accurate and time-efficient support that has driven the development of preventative interventions minimizing the risk and rate of progression. Background/Objectives: The rapid ageing of the European population places a substantial strain on the current healthcare system and imposes several challenges. COMFORTage is the joint effort of medical experts (i.e., neurologists, psychiatrists, neuropsychologists, nurses, and memory clinics), social scientists and humanists, technical experts (i.e., data scientists, AI experts, and robotic experts), digital innovation hubs (DIHs), and living labs (LLs) to establish a pan-European framework for community-based, integrated, and people-centric prevention, monitoring, and progression-managing solutions for dementia and frailty. Its main goal is to introduce an integrated and digitally enabled framework that will facilitate the provision of personalized and integrated care prevention and intervention strategies on dementia and frailty, by piloting novel technologies and producing quantified evidence on the impact to individuals’ wellbeing and quality of life. Methods: A robust and comprehensive design approach adopted through this framework provides the guidelines, tools, and methodologies necessary to empower stakeholders by enhancing their health and digital literacy. The integration of the initial information from 13 pilots across 8 European countries demonstrates the scalability and adaptability of this approach across diverse healthcare systems. Through a systematic analysis, it aims to streamline healthcare processes, reduce health inequalities in modern communities, and foster healthy and active ageing by leveraging evidence-based insights and real-world implementations across multiple regions. Results: Emerging technologies are integrated with societal and clinical innovations, as well as with advanced and evidence-based care models, toward the introduction of a comprehensive global coordination framework that: (a) improves individuals’ adherence to risk mitigation and prevention strategies; (b) delivers targeted and personalized recommendations; (c) supports societal, lifestyle, and behavioral changes; (d) empowers individuals toward their health and digital literacy; and (e) fosters inclusiveness and promotes equality of access to health and care services. Conclusions: The proposed framework is designed to enable earlier diagnosis and improved prognosis coupled with personalized prevention interventions. It capitalizes on the integration of technical, clinical, and social innovations and is deployed in 13 real-world pilots to empirically assess its potential impact, ensuring robust validation across diverse healthcare settings.