A5025564778- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Virus-based gene therapy research
- Parvovirus B19 Infection Studies
- Trace Elements in Health
- RNA modifications and cancer
- Lysosomal Storage Disorders Research
- RNA Interference and Gene Delivery
- Folate and B Vitamins Research
- Neurogenetic and Muscular Disorders Research
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- Neonatal Health and Biochemistry
- Epigenetics and DNA Methylation
- CAR-T cell therapy research
- Hemoglobin structure and function
- Hematopoietic Stem Cell Transplantation
- Advanced biosensing and bioanalysis techniques
- Innovation and Socioeconomic Development
Cyprus Institute of Neurology and Genetics
2016-2025
Palmetto Hematology Oncology
2019
Johannes Gutenberg University Mainz
2017
University Medical Center of the Johannes Gutenberg University Mainz
2017
University of Padua
2017
Freie Universität Berlin
2017
Cyprus Institute
2000
Archbishop Makarios III Hospital
1999
Ministry of Health
1999
Augusta University
1995
Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on globin gene clusters, in addition to numerous clinically important trans-acting disease modifiers encoded elsewhere a multitude polymorphisms relevance for advanced diagnostic approaches. Moreover, new disease-linked variations discovered every year that not included traditional often functionally limited...
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures has contributed a reduction in childhood mortality from SCD. Policies methodologies NBS vary different countries, this might have consequences the quality clinical outcomes across Europe. A two-day Pan-European consensus conference was held Berlin April 2017 order appraise current status...
Abstract Haemoglobinopathies are the most common monogenic diseases, posing a major public health challenge worldwide. Cyprus has one highest prevalences of thalassaemia in world and been first country to introduce successful population-wide prevention programme, based on premarital screening. In this study, we report significant comprehensive update status haemoglobinopathies for at least two decades. First, identified analysed all known 592 β-thalassaemia patients 595 Hb H disease Cyprus....
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...
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption monogenic disorders, such as β-thalassaemia, proven challenging. Haemoglobinopathies are most common disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive haplotyping (NIPH) assay utilizing cell-free DNA (cfDNA) from maternal plasma. The determines paternal inheritance by analyzing highly heterozygous...
The spectrum of the β-thalassemia mutations Thailand, Pakistan, India, Sri Lanka, Mauritius and Syria has been further characterized by a multi-center study 1,235 transfusion-dependent patients, discovered used to assess fidelity simple diagnostic strategy. A total 44 were identified either allele-specific oligonucleotide hybridization, amplification with primers, or DNA sequencing amplified product. results confirm extend earlier findings for Syria. This is first detailed report Lanka. Two...
We have determined the α‐thalassaemia (α‐thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 Greek Cypriots. Four deletional three non‐deletional α‐thal alleles present; ‐α(3.7 kb) α‐thal‐2 — MED‐1 α‐thal‐1 most frequently seen; MED‐II ‐(α) 20.5 deletions occurred at considerably lower frequencies. About 15% of all chromosomes carried a allele; these 5 nucleotide (nt) deletion first intervening sequence (IVS‐I) donor splice site was present ˜ 8%...
β‐Thalassemia is one of the most common autosomal recessive single‐gene disorders in Cyprus. Development a noninvasive prenatal diagnostic (NIPD) assay for β‐thalassemia based mostly on detection paternally inherited single nucleotide polymorphisms (SNPs) using rrayed p rimer ex tension (APEX) method. Eleven SNPs with high degree heterozygosity Cypriot population were selected and analyzed 34 families informative determined. The APEX was used maternal plasma seven SNPs; paternal allele fetus...
Aim: In humans, fetal hemoglobin (HbF) production is controlled by many intricate mechanisms that, to date, remain only partly understood. Patients & methods: Pharmacogenomic analysis of the effects hydroxyurea (HU) on HbF was undertaken in a collection Hellenic βthalassemia and sickle cell disease (SCD) compound heterozygotes healthy KLF1-haploinsufficient Maltese adults, identify genomic signatures that follow high patterns. Results: KLF10 emerged as top candidate. Moreover, genotype major...
The clinical severity in thalassaemia major (TM) depends on the underlying mutations of beta-globin gene and degree iron overload.The aim study was to investigate impact genotype development endocrine complications TM our center.126 (62 males, 64 females) thalassaemic patients Greek Cypriot origin with a mean age 31.2 (17-68) yr were included study. All patients, who standard treatment protocol, subsequently divided into two groups according their genotype, group A (92): no mitigating factor...
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...