George M. Spyrou

George M. Spyrou
Cyprus Institute of Neurology and Genetics · Bioinformatics Department

PhD
Systems Bioinformatics, Network Science, Biomarker Discovery, Drug Repurposing, Precision and Personalized Medicine

About

237
Publications
24,872
Reads
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2,206
Citations
Citations since 2016
119 Research Items
1679 Citations
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20162017201820192020202120220100200300
20162017201820192020202120220100200300
20162017201820192020202120220100200300
Additional affiliations
April 2019 - present
The Cyprus School of Molecular Medicine
Position
  • Professor
March 2016 - present
Cyprus Institute of Neurology and Genetics
Position
  • Chair
January 2009 - September 2017
National and Kapodistrian University of Athens
Position
  • Instructor

Publications

Publications (237)
Article
Full-text available
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some of the members of this family of disorders. In addition to the current diagnostic tools, there is...
Article
Full-text available
Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes, including GBA2 . This gene codes for the non-lysososomal β-glucosylceramidase, which is involv...
Article
The emerging high-throughput technologies have led to the shift in the design of translational medicine projects towards collecting multi-omics patient samples and, consequently, their integrated analysis. However, the complexity of integrating these datasets has triggered new questions regarding the appropriateness of the available computational m...
Article
Full-text available
Coronavirus Disease 2019 (COVID-19) is associated with increased incidence of neurological diseases and neuropsychiatric disorders after infection, but how it contributes to their development remains under investigation. Here, we investigate the possible relationship between COVID-19 and the development of ten neurological disorders and three neuro...
Article
Full-text available
Background Clinical classification of autistic patients based on current WHO criteria provides a valuable but simplified depiction of the true nature of the disorder. Our goal is to determine the biology of the disorder and the ASD-associated genes that lead to differences in the severity and variability of clinical features, which can enhance the...
Article
Full-text available
Females are underrepresented in the science, technology, engineering, mathematics and medicine (STEMM) disciplines globally and although progress has been made, the gender gap persists. Our aim was to explore gender parity in the context of gender representation and internal collaboration at the Cyprus Institute of Neurology and Genetics (CING), a...
Article
Full-text available
Bidirectional cross-talk between commensal microbiota and the immune system is essential for the regulation of immune responses and the formation of immunological memory. Perturbations of microbiome-immune system interactions can lead to dysregulated immune responses against invading pathogens and/or to the loss of self-tolerance, leading to system...
Article
Full-text available
Osteoarthritis, the most common joint disorder, is characterised by deterioration of the articular cartilage. Many studies have identified potential therapeutic targets, yet no effective treatment has been determined. The aim of this study was to identify and rank osteoarthritis-associated genes and micro-RNAs to prioritise those most integral to t...
Article
Full-text available
Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has been performed on the biomarkers’ development for the most rare muscular dystrophies, like the Faci...
Article
Full-text available
Alzheimer’s disease (AD) is a progressive neurodegenerative disease and the most common type of dementia. With no disease-curing drugs available and an ever-growing AD-related healthcare burden, novel approaches for identifying therapies are needed. In this work, we propose stage-specific candidate repurposed drugs against AD by using a novel netwo...
Article
Full-text available
Background This study aims to characterize SARS-CoV-2 mutations which are primarily prevalent in the Cypriot population. Moreover, using computational approaches, we assess whether these mutations are associated with changes in viral virulence. Methods We utilize genetic data from 144 sequences of SARS-CoV-2 strains from the Cypriot population obt...
Article
Background/aim: Colon cancer is one of the most common cancer types and the second leading cause of death due to cancer. Many efforts have been performed towards the investigation of molecular alterations during colon cancer progression. However, the identification of stage-specific molecular markers remains a challenge. The aim of this study was...
Article
Full-text available
The predominance of bacterial taxa in the gut, was examined in view of the putative antimicrobial peptide sequences (AMPs) within their proteomes. The working assumption was that compatible bacteria would share homology and thus immunity to their putative AMPs, while competing taxa would have dissimilarities in their proteome-hidden AMPs. A network...
Article
Full-text available
Skeletal muscle growth and maintenance depend on two tightly regulated processes, myogenesis and muscle regeneration. Both processes involve a series of crucial regulatory molecules including muscle-specific microRNAs, known as myomiRs. We recently showed that four myomiRs, miR-1, miR-133a, miR-133b, and miR-206, are encapsulated within muscle-deri...
Article
Introduction The pathogenesis of cutaneous T-cell lymphoma (CTCL) remains poorly understood and the histologic diagnosis of early MF is one of the most vexing problems in dermatopathology. Our aim was to apply state-of-the-art bioinformatic tools in order to unravel the mechanisms of CTCL pathobiology, to address new therapeutic possibilities as we...
Article
Full-text available
Myotonic Dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, primarily characterized by muscle wasting and weakness. Many biomarkers already exist in the rapidly developing biomarker research field which aim to improve patients’ care. Limited work, however, has been performed on rare diseases, including DM1. We have previously...
Article
Full-text available
Goal: Most common diseases are influenced by multiple gene interactions and interactions with the environment. Performing an exhaustive search to identify such interactions is computationally expensive and needs to address the multiple testing problem. A four-step framework is proposed for the efficient identification of n-Way interactions. Methods...
Article
Full-text available
Whole genome sequencing of viral specimens following molecular diagnosis is a powerful analytical tool of molecular epidemiology that can critically assist in resolving chains of transmission, identifying of new variants or assessing pathogen evolution and allows a real-time view into the dynamics of a pandemic. In Cyprus, the first two cases of CO...
Article
Full-text available
A fundamental issue related to the understanding of the molecular mechanisms, is the way in which common pathways act across different biological experiments related to complex diseases. Using network-based approaches, this work aims to provide a numeric characterization of pathways across different biological experiments, in the prospect to create...
Preprint
This study aims to characterize SARS-CoV-2 mutations which are primarily prevalent in the Cypriot population. Moreover, using computational approaches, we assess whether these mutations are associated with changes in viral virulence. We utilize genetic data from 144 sequences of SARS-CoV-2 strains from the Cypriot population obtained between March...
Article
Full-text available
During the course of a viral infection, virus–host protein–protein interactions (PPIs) play a critical role in allowing viruses to replicate and survive within the host. These interspecies molecular interactions can lead to viral-mediated perturbations of the human interactome causing the generation of various complex diseases. Evidences suggest th...
Article
Full-text available
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic is undeniably the most severe global health emergency since the 1918 Influenza outbreak. Depending on its evolutionary trajectory, the virus is expected to establish itself as an endemic infectious respiratory disease exhibiting seasonal flare-ups. Therefore, despite the unpr...
Article
Full-text available
Background Next-generation sequencing (NGS) represents a significant advancement in clinical genetics. However, its use creates several technical, data interpretation and management challenges. It is essential to follow a consistent data analysis pipeline to achieve the highest possible accuracy and avoid false variant calls. Herein, we aimed to co...
Article
Full-text available
Fibrotic diseases cover a spectrum of systemic and organ-specific maladies that affect a large portion of the population, currently without cure. The shared characteristic these diseases feature is their uncontrollable fibrogenesis deemed responsible for the accumulated damage in the susceptible tissues. Idiopathic Pulmonary Fibrosis , an interstit...
Preprint
Full-text available
Whole genome sequencing of viral specimens following molecular diagnosis is a powerful analytical tool of molecular epidemiology that can critically assist in resolving chains of transmission, identifying of new variants or assessing pathogen evolution and allows a real-time view into the dynamics of a pandemic. In Cyprus, the first two cases of CO...
Article
Full-text available
Despite their distinct clinical manifestation, frontal fibrosing alopecia (FFA) and lichen planopilaris (LPP) display similar histopathologic features. Aberrant innate immune responses to endogenous or exogenous triggers have been discussed as factors that could drive inflammatory cascades and the collapse of the stem cell niche. In this explorator...
Article
Full-text available
Human skin and hair follicles are recognized sites of microbial colonization. These microbiota help regulate host immune mechanisms via an interplay between microbes and immune cells, influencing homeostasis and inflammation. Bacteria affect immune responses by controlling the local inflammatory milieu, the breakdown of which can result in chronic...
Article
Full-text available
This study aims to highlight SARS-COV-2 mutations which are associated with increased or decreased viral virulence. We utilize genetic data from all strains available from GISAID and countries’ regional information, such as deaths and cases per million, as well as COVID-19-related public health austerity measure response times. Initial indications...
Preprint
Full-text available
During the course of a viral infection, virus-host protein-protein interactions (PPIs) play a critical role in allowing viruses to evade host immune responses, replicate and hence survive within the host. These interspecies molecular interactions can lead to viral-mediated perturbations of the human interactome causing the generation of various com...
Article
Full-text available
Background: Systems Medicine is a novel approach to medicine, i.e. an interdisciplinary field that considers the human body as a system, composed of multiple parts and of complex relationships at multiple levels, and further integrated into an environment. Exploring Systems Medicine implies understanding and combining concepts coming from diametral...
Chapter
Signal transduction tasks as well as other complex biological processes involve many different changes in groups of genes, proteins, and metabolites linked together in chains or networks called pathways or networks of pathways. In a classical functional analysis, the biomolecules found to play a role in the biological status under investigation are...
Article
Full-text available
In Cyprus, approximately 9% of triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer (TNBC) patients are positive for germline pathogenic variants (PVs) in BRCA1/2. However, the contribution of other genes has not yet been determined. To this end, we aimed t...
Article
Full-text available
Huntington's disease is a rare neurodegenerative disease caused by a cytosine-adenine-guanine (CAG) trinucleotide expansion in the Huntingtin (HTT) gene. Although Huntington's disease (HD) is well studied, the pathophysiological mechanisms, genes and metabolites involved in HD remain poorly understood. Systems bioinformatics can reveal synergistic...
Preprint
Full-text available
The SARS-CoV-2 pandemic is undeniably the most severe global health emergency since the 1918 Influenza outbreak. Depending on its evolutionary trajectory, the virus is expected to establish itself as an endemic infectious respiratory disease exhibiting seasonal flare-ups. Therefore, despite the unprecedented rally to reach a vaccine that can offer...
Article
Full-text available
Spastic ataxia (SA) is a group of rare neurodegenerative diseases, characterized by mixed features of generalized ataxia and spasticity. The pathogenetic mechanisms that drive the development of the majority of these diseases remain unclear, although a number of studies have highlighted the involvement of mitochondrial and lipid metabolism, as well...
Article
Full-text available
Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by Gonadotropin-Releasing Hormone (GnRH) deficiency. So far a limited number of variants in several genes have been associated with the pathogenesis of the disease. In this original research and review manuscript the retrospective analysis of known variants...
Preprint
This study aims to highlight SARS-COV-2 mutations which are associated with increased or decreased viral virulence. We utilize, genetic data from all strains available from GISAID and countries' regional information such as deaths and cases per million as well as covid-19-related public health austerity measure response times. Initial indications o...
Article
Full-text available
Objective Transcranial magnetic stimulation (TMS), a non-invasive procedure, stimulates the cortex evaluating the central motor pathways. The response is called motor evoked potential (MEP). Polyphasia results when the response crosses the baseline more than twice (zero crossing). Recent research shows MEP polyphasia in patients with generalized ge...
Preprint
Full-text available
Subject Fibrotic diseases cover a spectrum of systemic and organ-specific maladies that affect a large portion of the population, currently without cure. The shared characteristic these diseases feature is their uncontrollable fibrogenesis deemed responsible for the accumulated damage in the susceptible tissues. Idiopathic Pulmonary Fibrosis ( IPF...
Article
Full-text available
Background: Approximately 50% of systemic lupus erythematosus (SLE) patients develop nephritis, which is among the most severe and frequent complications of the disease and a leading cause of morbidity and mortality. Despite intensive research, there are still no reliable lupus nephritis (LN) markers in clinical use that can assess renal damage an...
Article
Full-text available
ProTExA is a web-tool that provides a post-processing workflow for the analysis of protein and gene expression datasets. Using network-based bioinformatics approaches, ProTExA facilitates differential expression analysis and co-expression network analysis as well as pathway and post-pathway analysis. Specifically, for a given set of protein-gene ex...
Article
Full-text available
Background: Pathogenesis and aetiology of systemic sclerosis (SSc) are currently unclear, thus rendering disease prognosis, diagnosis and treatment challenging. The aim of this study was to use paired skin biopsy samples from affected and unaffected areas of the same patient, in order to compare the proteomes and identify biomarkers and pathways w...
Article
Full-text available
Motivation: Understanding the underlying biological mechanisms and respective interactions of a disease remains an elusive, time consuming and costly task. Computational methodologies that propose pathway/mechanism communities and reveal respective relationships can be of great value as they can help expedite the process of identifying how perturb...
Preprint
Full-text available
Understanding disease underlying biological mechanisms and respective interactions remains an elusive, time consuming and costly task. The realization of computational methodologies that can propose pathway/mechanism communities and reveal respective relationships can be of great value as it can help expedite the process of identifying how perturba...
Article
Full-text available
ChemBioServer 2.0 is the advanced sequel of a web-server for filtering, clustering and networking of chemical compound libraries facilitating both drug discovery and repurposing. It provides researchers the ability to (i) browse and visualize compounds along with their physicochemical and toxicity properties, (ii) perform property-based filtering o...
Article
Full-text available
Background: Systems Medicine is a novel approach to medicine, i.e. an interdisciplinary field that considers the human body as a system, composed of multiple parts and of complex relationships at multiple levels, and further integrated into an environment. Exploring Systems Medicine implies understanding and combining concepts coming from diametral...
Conference Paper
Full-text available
Spastic ataxia (SA) is a term used to describe a neurodegenerative disorder that is characterised by imbalance and incoordination in gait and limbs, accompanied by spasticity. Recently the GBA2 gene has been reported as an SA associated gene. In 2014, Votsi et al., reported a novel missense mutation (Asp594His) in a Cypriot consanguineous family wi...
Article
Background: Texture analysis has been increasingly used in the field of positron emission tomography (PET)/computed tomography (CT) imaging with Fluorine-18 fluorodeoxyglucose (18F-FDG), aiming at assessing tumor heterogeneity. The purpose of the present study is to examine the feasibility of performing texture analysis in carotid arteries, invest...
Poster
Full-text available
Metabolites identified in the HD-related pathway can provide further insights on how an abnormal concentration of these metabolites can result in dysregulation of these specific pathways. The phenolic compounds present in olive oil have anti-oxidant and antiinflammatory properties. By reducing chronic neuro-inflammation and maintaining the body's a...
Presentation
Full-text available
Huntington's disease (HD), a rare autosomal dominant disease, affecting the medium spiny neurons of the CNS. Although HD is caused by a trinucleotide repeat in the HTT gene, it is a complex disease. Systems Bioinformatics which combines systems biology and bioinformatics, has the ability to reveal synergistic relationships between multiple entities...
Conference Paper
Full-text available
Huntington's disease (HD), a rare autosomal dominant disease, affecting the medium spiny neurons of the CNS. Although HD is caused by a trinucleotide repeat in the HTT gene, it is a complex disease. Systems Bioinformatics which combines systems biology and bioinformatics, has the ability to reveal synergistic relationships between multiple entities...
Article
Full-text available
Milk and dairy products are a major functional food group of growing scientific and commercial interest due to their nutritional value and bioactive “load”. A major fraction of the latter is attributed to milk’s rich protein content and its biofunctional peptides that occur naturally during digestion. On the basis of the identified proteome dataset...
Preprint
Full-text available
p>ChemBioServer 2.0 is the advanced sequel of a web-server for filtering, clustering and networking of chemical compound libraries facilitating both drug discovery and repurposing. It provides researchers the ability to (i) browse and visualize compounds along with their physicochemical and toxicity properties, (ii) perform property-based filtering...
Article
Purpose Disorders of sex development (DSD) have been linked to gene defects that lead to gonadal dysgenesis. Herein, we aimed to identify the genetic cause of gonadal dysgenesis in a patient with primary amenorrhoea tracing it to a phenotypic female carrying a 46,XY karyotype of a consanguineous family. Methods and results Whole exome sequencing (...