The Cyprus Institute of Neurology & Genetics (Department of Molecular Genetics Thalassaemia (MGTD))

GENERAL INFORMATION

Name of infrastructure: The Cyprus Institute of Neurology & Genetics (Department of Molecular Genetics Thalassaemia (MGTD))

Hosting Entity

Cyprus Institute of Neurology and Genetics

Scientific Domain: Biological/Biomedical Engineering and Biotechnology/Nanotechnology Research Facilities

Description and purpose of the Research Infrastructure

Mission: To identify and resolve current and emerging needs in diagnosis, therapy, research, education and knowledge infrastructure, in order to benefit society at large, and carrier and patient communities of thalassemias and other rare disorders in Cyprus in particular. Description & Objectives: Established to become a leading reference lab for thalassaemia in Cyprus, the Molecular Genetics Thalassaemia Department (MGTD) at CING is dedicated to excellence. It has built a global reputation for its outstanding services, research, and education. Providing genetic testing for variant detection and characterisation of hemoglobinopathies, the MGTD innovates diagnosis across monogenic diseases, as the national reference centre for their preimplantation genetic testing (PGT-M) and non-invasive prenatal testing (NIPT). Uniquely placed by combining clinical haematology services with exceptional molecular analysis expertise and equipment, the MGTD medical and diagnostic staff are dedicated to advancing and communicating precision diagnostics, and to offering personalized patient care and advice. MGTD research focuses on pioneering diagnostics and therapeutics for red blood cell disorders. To innovate treatments, the MGTD employs cutting-edge genome manipulation by gene addition and editing, in transgenic cell lines, stem cells and immunodeficient mice as surgical models. The MGTD implements patient registries for rare blood disorders, leads a large-scale, multi-ethnic genome-wide association study of genetic modifiers for hemoglobinopathies, and runs the world-leading database platform for non-malignant blood disorders, the ITHANET Portal. Committed to knowledge creation, education and alleviating the global haemoglobinopathy burden via data-driven healthcare, the MGTD is program partner and host for training of health professionals and leads the ClinGen-recognised Hemoglobinopathy Variant Curation Expert Panel.

USEFUL FIGURES

13

Personnel

38%

Male

62%

Female

104

Publications

ACCESS TO INFRASTRUCTURE

Academia
Industry
Public

CONTACT INFO

Postal Code: 2371

City: Nicosia

Website: https://www.cing.ac.cy/

INFORMATION OF INSTRUMENTATION OPERATING IN THE INFRASTRUCTURE

[BD Biosciences] FACS Aria III Flow Cytometry Cell Sorter

Name: [BD Biosciences] FACS Aria III Flow Cytometry Cell Sorter
Description: The BD FACSAria III Sorter enables high-performance analysis and high-performance sorting at exceptional optical detection sensitivity with fixed alignment of the cuvette flow cells. System with BD FACSDiva Software, 3 lasers (355 nm >15 mW, 488 nm >20 mW, 633 nm >18 mW), 10 fluorescence channels, 3 nozzle sizes (80, 100, 120 nm), 2-4-way sorting and plate-based single-cell sorting. Access through trained CING staff.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Flow cytometry cell sorting into up to four populations (plus waste) or into plates.

Year: 2021

Funding Source:

Available for access
by external users

[Sysmex] Haematology Analyser XT-2000iV

Name: [Sysmex] Haematology Analyser XT-2000iV
Description: Integrated system for combined multi-method measurement of blood parameters, including CBC and reticulocyte populations for animal and human samples. Technologies: Fluorescence Flow Cytometry: WBC DIFF, IG, RET, PLT-O Dc Sheath Flow Method: RBC, HCT, PLT Cyanide-Free Sls Method: HGB Out put parameters: WBC, RBC, HGB, HCT, MCV, MCH, MCHC, PLT, NEUT(%,#), LYMPH(%,#), MONO(%,#), EO(%,#), BASO(%,#), IG(%,#), RDW-SD, RDW-CV, MPV, P-LCR, PDW, PCT, RET(%,#), LFR, MFR, HFR, IRF, PLT-O research parameters: OTHER(%,#) Access through trained CING staff.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Comprehensive automatic haematology analysis, including enumeration of immature red blood cell populations.

Year: 2011

Funding Source:

Available for access
by external users

[MagCore] HF16 Automated Nucleic Acid Extraction System

Name: [MagCore] HF16 Automated Nucleic Acid Extraction System
Description: Simple, fast and cost-effective platform for automatic nucleic acid extraction from a diverse range of sample sources, with purity suitable for common molecular-biology downstream analyses. Basd on pre-programmed protocols and magnetic-bead-based reagent cartridges. Initial access through trained CING staff.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Automatic nucleic acid extraction.

Year: 2020

Funding Source:

Private

Available for access
by external users

[Sysmex/Partec] CyFlow Cube 6 Flow Cytometer

Name: [Sysmex/Partec] CyFlow Cube 6 Flow Cytometer
Description: Compact, low-noise benchtop flow cytometer for the analysis of individual cells and microscopic particles, equipped with 1 laser (488 nm) and 3 fluorescence channels (FITC, PE, PerCP). Simple CyFlow software for control, data acquisition, analysis and storage, and True Volumetric Absolute Counting (TVAC) for volumetry without addition of control particles. Initial access through trained CING staff.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Analytical flow cytometry for fluorochromes with 488-nm excitation.

Year: 2011

Funding Source:

Available for access
by external users

[Tharmac] Cytocentrifuge CellSpin II

Name: [Tharmac] Cytocentrifuge CellSpin II
Description: Robust CellSpin II system based on Hettich Universal 320 centrifuge for controlled deposition of cultured cells on up to 12 microscopy slides per run (for `Cytospin`™ protocols). Access through trained CING personnel.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Robust `Cytospin`™ system for subsequent staining and microscopic characterisation of cell populations.

Year: 2012

Funding Source:

Available for access
by external users

[Vilber Lourmat] Fusion FX7 Edge V.070 Spectra 7 Channel Flat Bed Imager

Name: [Vilber Lourmat] Fusion FX7 Edge V.070 Spectra 7 Channel Flat Bed Imager
Description: Fully specked Fusion-FX7.Edge with high-sensitivity ARQ-9 CCD camera: 4.6 megapixels / -65°C absolute cooling, proprietary V.070 Motorized Lens (24mm). FOV: 22x22cm, CN-800 darkroom with swappable epi white light, motorized filter wheel with 7 positions, color imaging, laser positioning system, Evolution-Capt Software, 7 Spectra Capsules (C640, C530, C480, C440, C740, C780, C680), 5 optical filters (F-565, F595 Y3, F-695 Y5, F-750, F-850). Access through trained CING staff.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

High-sensitivity, multiplex blot and gel imager for chemiluminescence, brightfield and fluorescence imaging.

Year: 2021

Funding Source:

Available for access
by external users

[Shimadzu] Prominence HPLC System

Name: [Shimadzu] Prominence HPLC System
Description: Modular low-pressure gradient HPLC system with high-sensitivity PDA measurement of 190 nm to 800 nm absorbance and gradients of up to for liquid phases. Established RP-HPLC and CE-HPLC protocols and autosamples for up to 70 samples. Modules: System Controller CBM-20A, Solvent Delivery Unit LC-20AD, CTO-20AC, Column Oven CTO-20A, Photo-diode array detector SPD-M20A, Online degassing unit DGU-20A, Fraction collector FRC-10A. Access through trained CING staff.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

HPLC system for chromatographic characterisation of analytes. Current use is the fast, automatic analysis of blood and cell samples for haemoglobins and globins.

Year: 2007

Funding Source:

Available for access
by external users

[Qiagen] QIAcuity 5-plex digital PCR System

Name: [Qiagen] QIAcuity 5-plex digital PCR System
Description: Fully integrated plate-based digital PCR system for single-plate runs with advanced 5plex multiplexing, high sensitivity comprehensive results for 24 plates at 26k partitions each, in approx. 2 hours.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

All-in-one easy-to-use digital PCR system for up to 5plex (incl. calibrator), sensitive, accurate and robust quantification of nucleic acid subpopulations, including for mtuation detection, vector titration and measurement of differential expression.

Year: 0000

Funding Source:

Available for access
by external users

[Olympus] IX73PIF Inverted Microscope

Name: [Olympus] IX73PIF Inverted Microscope
Description: Inverted Microscope with automatic multiple-channel acquisition (based on manual filter selection), with 3 lenses (10x UPlan FL N, 20x LucPlan FL N, 40x LucPlan FL N), 4 fluorescence channels, U-LEDPS and U-HGLGPS light sources, automatic X/Y stage, Olympus LC35 camera, CellSense software. Access through qualified CING personnel within the BSL2 cell culture facility.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Brightfield and fluorescence imaging of live and fixed cells and samples.

Year: 2015

Funding Source:

Available for access
by external users

[Multiple Manufacturers] 96-well thermal cyclers

Name: [Multiple Manufacturers] 96-well thermal cyclers
Description: Peltier-based 96-well thermal cyclers with heated lid for end-point PCR performance
Units: 5
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Endpoint PCR protocols.

Year: 0000

Funding Source:

Available for access
by external users

[ABI] ABI Q5 Real-time Quantitative PCR System

Name: [ABI] ABI Q5 Real-time Quantitative PCR System
Description: 5-channel, white LED real-time PCR System with superior performance, maximum dye versatility in a compact benchtop design and 21 CFR Part 11 compliance. Initial access through trained CING staff.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Real-time PCR protocols with up to 5plex detection

Year: 2012

Funding Source:

Available for access
by external users

[LONZA] Nucleofector 4D (Core Unit & X Module)

Name: [LONZA] Nucleofector 4D (Core Unit & X Module)
Description: Pre-set protocols and reagents optimized by the manufacturer for a large range of cell lines allow high-efficiency (99%) transfection with nucleic acids at high viability (>95%) of cell lines and primary cells. Systems with the core control unit and the standard nucleofection X unit for detached cells in 100 μL cuvettes. Protocols established on site allow RNA, RNP or plasmid-based nucleofection of gene editing tools and plasmids at high efficiency, with best results for hematogpoietic stem cells and RNPs, at >95% efficiency and viability. Access through trained CING staff.
Units: 2
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Highest-performance, highest-viability electroporation for transfection and/or editing of cell lines and primary cells.

Year: 2022

Funding Source:

Available for access
by external users

[Logos Biosystems] Luna-II Automated Cell Counter

Name: [Logos Biosystems] Luna-II Automated Cell Counter
Description: Automated cell counter for fast brightfield-based total and viable cell counting, using disposable or reusable cell counting slides. Output on thermal paper and/or by USB export. Initial access and use of the reusable counting slide through trained CING staff.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Live and dead cell counting.

Year: 2022

Funding Source:

Available for access
by external users

[Labcaire ] PCR Workstation PCR6

Name: [Labcaire ] PCR Workstation PCR6
Description: PCR workstation designed to provide clean air conditions for preparing PCR and other sterile samples without risking contamination. Featuring a built-in, automatically timed UV sterilizer, >Class 100 clean air conditions and negative pressure filter seals to eliminate the possibility of leaks.
Units: 2
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Setting up contamination-free PCR analyses.

Year: 2003

Funding Source:

Available for access
by external users

[Nuaire] Laminar Flow Cabinet BSL Class II

Name: [Nuaire] Laminar Flow Cabinet BSL Class II
Description: Class II cabinet for cell and tissue culture, offering operator, product and environmental protection. Provides laboratory safety through Hepa filters, reliable airflow, proper laboratory ergonomics, and excellent energy efficiency. With internal electrical outlet, gas outlet and and lighting.
Units: 1
Hosting Laboratory / Department: Molecular Genetics Thalassaemia

Brief description of the utilization of the instrument:

Safe cell and advanced-therapy-vector handling.

Year: 2004

Funding Source:

Available for access
by external users