A5006953434- Hemoglobinopathies and Related Disorders
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- CRISPR and Genetic Engineering
- Iron Metabolism and Disorders
- Virus-based gene therapy research
- Folate and B Vitamins Research
- RNA modifications and cancer
- Genetic Associations and Epidemiology
- Blood groups and transfusion
- Genomic variations and chromosomal abnormalities
- RNA and protein synthesis mechanisms
- RNA Interference and Gene Delivery
- Viral gastroenteritis research and epidemiology
- Pesticide and Herbicide Environmental Studies
- Neurogenetic and Muscular Disorders Research
- Single-cell and spatial transcriptomics
- Viral Infections and Immunology Research
- Parvovirus B19 Infection Studies
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- DNA and Nucleic Acid Chemistry
- Pharmaceutical and Antibiotic Environmental Impacts
- CAR-T cell therapy research
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
Cyprus Institute of Neurology and Genetics
2015-2024
Agruicultural Research Institute
2019-2022
King's College London
2016-2019
Cell and Gene Therapy Catapult
2017
University College London
2013
ObjectiveTo replicate the associations of leukocyte telomere length (LTL) with variants at four loci and to investigate their coronary heart disease (CHD) type II diabetes (T2D), in order examine possible causal effects maintenance machinery on aetiology. MethodsFour SNPs three BICD1 (rs2630578 GγC), 18q12.2 (rs2162440 GγT), OBFC1 (rs10786775 CγG, rs11591710 AγC) were genotyped studies comprised 2353 subjects out which 1148 had CHD 566 T2D. Three (rs12696304 rs10936601G>T rs16847897 GγC)...
Accurate and consistent interpretation of sequence variants is integral to the delivery safe reliable diagnostic genetic services. To standardize process, in 2015, American College Medical Genetics Genomics (ACMG) Association for Molecular Pathology (AMP) published a joint guideline based on set shared standards classification Mendelian diseases. The generality these their subjective between laboratories has prompted efforts reduce discordance variant classifications, with focus expert...
The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global Variome Project (HVP) focusing on haemoglobinopathies to build capacity for genomic diagnosis, clinical services, and research in low- middle-income countries. At present, there no framework evaluate improvement care, treatment, prevention thalassaemia other globally, despite being one most common monogenic diseases worldwide. Here, we propose universally applicable system evaluating grouping countries...
Abstract Background Thalassemias are inherited blood disorders and by far one of the most common monogenic diseases globally. Beta-thalassemia has a particularly high prevalence in Cyprus, with IVSI-110 G>A (HBB:c.93-21G>A) pathogenic variation representing almost 79% total carriers. The discovery that 3% to 20% cell-free fetal DNA (cffDNA) is present maternal plasma allowed development non-invasive prenatal diagnosis (NIPD) diseases, like beta-thalassemia, avoiding risks...
Lentiviruses are the vectors of choice for many preclinical studies and clinical applications gene therapy. Accurate measurement biological vector titre before treatment is a prerequisite dosing, calculation integration sites per cell after as critical to characterisation modified products it long-term follow-up assessment risk therapeutic efficiency in patients. These analyses typically based on quantitative real-time PCR (qPCR), but yet compromise accuracy comparability between...
Abstract The different types of land-use and soil lithology in urban peri-urban areas modern cities compose a complex mosaic ecosystems. It is largely unknown how these differences result changes bacterial community composition structure as well functional guilds involved N cycling. To investigate the proportion denitrifiers agricultural, forested, schoolyard industrial areas, 24 samples were collected from sites Lefkosia. Bacterial diversity assessed by NGS qPCR, respectively....
The +33 C>G variant [NM_000518.5(HBB):c.-18C>G] in the 5′ untranslated region (UTR) of β-globin gene is described literature as both mild and silent, while it causes a phenotype thalassemia intermedia presence severe β-thalassemia allele. Despite its potential clinical significance, determination pathogenicity according to established standards requires greater number published cases co-segregation evidence than what currently available. present study provides an extensive phenotypic...
The β-hemoglobinopathies sickle cell anemia and β-thalassemia are the focus of many gene-therapy studies. A key disease parameter is abundance globin chains because it indicates level anemia, likely toxicity excess or aberrant globins, therapeutic potential induced exogenous β-like globins. Reversed-phase high-performance liquid chromatography (HPLC) allows versatile inexpensive quantification, but commonly applied protocols suffer from long run times, high sample requirements, inability to...
Hemoglobinopathies are the commonest monogenic diseases, with ≈6% of world's population carrying a pathogenic globin gene variant.1,2 To date, >2400 disease-causing variants have been reported in IthaGenes database,3,4 various severity and clinical presentation.5 Nevertheless, most these rare their functional impact is unclear. The use case-level data subsequent genotype-phenotype correlations can enhance our understanding pathophysiological mechanisms hemoglobinopathies assist diagnosis...
Haemoglobinopathies are the commonest monogenic diseases worldwide and caused by variants in globin gene clusters. With over 2400 detected to date, their interpretation using American College of Medical Genetics Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines is challenging computational evidence can provide valuable input about functional annotation. While many silico predictors have already been developed, performance varies different genes diseases. In this study, we...
The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, state if the question would be reported as a relevant result or not measure of utility. In contrast system, system was made guide reporting but determine likelihood pathogenicity. Nevertheless, this comparison is justified since class determines many laboratories. Forty-three participated survey. seven cases, used did...
ABSTRACT Haemoglobinopathies are the commonest monogenic diseases, with millions of carriers and patients worldwide. Online resources for haemoglobinopathies largely divided into specialised sites catering patients, researchers clinicians separately. However, severity, ubiquity surprising genetic complexity call an integrated website to serve as a free comprehensive repository tool scientists health professionals alike. This paper presents ITHANET community portal, expanding resource dealing...
Haemoglobinopathies are common monogenic disorders with diverse clinical manifestations, partly attributed to the influence of modifier genes. Recent years have seen enormous growth in amount genetic data, instigating need for ranking methods identify candidate genes strong modifying effects. Here, we present first evidence-based gene metric (IthaScore) haemoglobinopathy-specific phenotypes by utilising curated data IthaGenes database. IthaScore successfully reflects current knowledge...
Several types of haemoglobinopathies are caused by copy number variants (CNVs). While diagnosis is often based on haematological and biochemical parameters, a definitive requires molecular DNA analysis. In some cases, the characterisation large deletions/duplications challenging inconclusive use specific diagnostic procedures, such as multiplex ligation-dependent probe amplification (MLPA). Herein, we collected comprehensively analysed all known CNVs associated with haemoglobinopathies. The...
Therapy via the gene addition of anti-sickling βAS3-globin transgene is potentially curative for all β-hemoglobinopathies and therefore particular clinical commercial interest. This study investigates GLOBE-based lentiviral vectors (LVs) evaluates strategies an increased β-like globin expression without vector dose escalation. First, we report development a GLOBE-derived LV, GLV2-βAS3, which, compared to its parental vector, adds action transcription-enhancing 848-bp transcription terminator...
Background: The ITHANET Portal (www.ithanet.eu) is an expanding, publicly available biomedical resource dedicated to haemoglobinopathies. It provides a manually curated, literature-derived collection of published genetic and epidemiological data, also integrating the latest updates on news, events, publications, clinical trials, funding opportunities, many more. Methods: A team expert biocurators involved in collection, validation annotation information with weekly scientific literature...