Biomedical Sciences

(Hemoglobinopathy Investigators Thessalia Papasavva, Stephania Byrou; Hematology Investigator Panayiota L Papasavva)
Molecular research based on massively parallel sequencing and additional characterization of rare disorders, including:

• Hemoglobinopathies and other hematological disorders
• Predisposition to hematological malignancies
• Hepatological disorders
• Osteological disorders
• Iron metabolism and heme synthesis disorders
• Oxidative stress disorder

Specialized diagnostics for monogenic disorders, with emphasis on blood disorder genetics, including:

• Bespoke PGT based on long-read massively parallel sequencing (Oxford Nanopore Technology) 
• Advanced NIPT assays for sex determination and monogenic disorders

Integration of molecular research with hematological clinical analyses, management and treatment (see here).

(Investigators Carsten W Lederer, Petros Patsali, Panayiota L Papasavva, Marios Phylactides)
Establishment of novel gene therapy approaches for hemoglobinopathies and other hematological diseases, based on genome editing and gene addition techniques, to address:

• β-Thalassemia
• Sickle cell disease 
• α-Thalassemia
• Iron homeostasis disorders

Development of advanced therapies for patients in Cyprus in collaboration with international centers and companies
Exploration of novel vectors for delivery and of novel tools for targeted DNA modification, to enable translational research of therapies, biomarkers and gene function
 

(Investigators Marios S Phylactides, Petros Kountouris, Coralea Stephanou)
Establishment of CING as the national node for biomarker discovery and development for a translational-focused European Research Infrastructure, with BDGT focus on:

• Research of erythroid and globin gene regulation
• Identification of novel therapeutic targets for blood disorders
• Discovery and development of disease biomarkers
   

(Investigators Petros Kountouris, Coralea Stephanou)
Development of patient registries for rare hematological diseases at the national and European level, including: 

• RADeep (see here)
• ENROL (see here)

Leadership in the international curation of hematological disease variants and databases, including by:

• Development and coordination of the world-leading ITHANET portal for hemoglobinopathies and related disorders, and associated genotype, phenotype, epidemiology and health-policy assets (see here)
• Coordination of the dedicated ClinGen-recognized Hemoglobinopathy Variant Curation Expert Panel (see here)
• Coordination of the INHERENT network for identification of disease modifiers (see here)
• Coordination of database FAIRification efforts (see here)