INSTITUTE OF MEDICAL GENETICS
INTRODUCTION
The main profiles of our institute are education, research and outpatient health care.
Our outpatient unit provides services for the whole country. We see nearly 1,000 new patients every year. These people almost exclusively suffer from some form of "rare diseases".
We launched our oncogenetics outpatient services which is also available nationwide. Our pediatric oncogenetics unit is also accessible for the whole country.
Our health care includes an accurate diagnosis and the commencement of the treatment. For those diseases where there is no treatment we monitor patients and organise their supportive treatment.
The Clinical Centre of the University of Pécs was designated as a "Centre of Expertise for Rare Diseases" in 2016. Since then our institute has become the coordinator of this centre of expertise.
Number of clinical trial investigators with Good Clinical Practice (GCP) certificate: 1
Number of clinical trial doctors with Good Clinical Practice (GCP) certificate: 1
Number of specialist doctors with Clinical Pharmacology certificate: 0
EQUIPMENT FOR CLINICAL TRIALS
- refrigerator, - 80°C
- refrigerator, - 20 °C
- tempreture-regulated centrifuge
- room suitable for storing test material
- room with controlled environment
Special genetic laboratory instruments:
- Agilent High Resolution Microarray Scanner (G2565CA)
- Affymetrix CytoScan Instrument
- Affymetrix GeneTitan Multi-Channel (MC) Instrument
- Illumina MiSeq Sequencing System
- Illumina MiniSeq Sequencing System
- ABI PRISM 3500 DNA sequencer
- ABI PRISM 3130 DNA sequencer
- Micromass Quattro Ultima QQ Mass Spectrometer
- Bio-Rad Chromo4 real-time machine (2)
- Bio-rad C1000 Touch Thermal Cycler (2)
- Sensoquest Labcycler (6)
- Gel documentation systems (UVP Doc-It and microDOC BASIC Gel Documentation Hood with Standard UV Transilluminator)
- Magna Pure Compact System for nucleic acid purification
- Nanodrop 2000 (2)
- Agilent 2100 Bioanalyzer
- Illumina Eco real-time PCR (4)
- Scanspeed MiniVac Beta vacuum concentrator
- Zeiss Axioskop 2 (1)
- Zeiss Axioskop 2 plus (2)
REFERENCE CLINICAL TRIALS
Protocol Identifier | Study name | Principal Investigator |
DSCP-01 | Phase II/III study of the efficacy and safety of topical rapamycin cream for the treatment of facial angiofibroma associated with tuberous sclerosis. | Dr. Kinga Hadzsiev |
PRINCIPAL INVESTIGATORS
Dr. Kinga Hadzsiev
| SCIENTIFIC DEGREE | PhD Med. habil. |
| POSITION | University Associate Professor |
| QUALIFICATIONS | Pediatrics, Clinical genetics, Pediatric neurology, Neonatology |
| SCIENTIFIC INTEREST | genotype-phenotype associations of rare neurological diseases |
| REFERENCE CLINICAL TRIALS | DSCP-01 |
| AVAILABLE FOR PERFORMING CLINICAL TRIALS | Phase 1-4 |
Dr. Ágnes Till
| SCIENTIFIC DEGREE | |
| POSITION | University Teacher |
| QUALIFICATIONS | Pediatrics, Pediatric neurology, Neonatology |
| SCIENTIFIC INTEREST | rare epilepsy syndromes R |
| REFERENCE CLINICAL TRIALS | |
| AVAILABLE FOR PERFORMING CLINICAL TRIALS | Phase 1-4 |
STUDY TEAM
We carry out clinical trials by using the Coordination Centre for Clinical Trials (KVKK).
Created: 10/16/2019
Last updated: 16.10.2019.