News
Updated list of 2026 publications linked with the support of NCMG as of 9/2026. – 18.09.2026
Added an updated overview of 2026 publications linked with the support of NCMG as of 8/2026. – 17.08.2026
The genomic variant database has been updated. The database includes 3206 samples, comprising 1745 female and 1461 male individuals.
These samples represent the general population without severe diseases. The database contains 707 011 variants. - 24.06.2026
Added an updated overview of 2026 publications linked with the support of NCMG as of 6/2026. – 19.06.2026
Added presentation with technical parameters of available sequencing technologies (section Services; Technologies) – 15.06.2026
Collaboration between SPADIA Laboratory, NCMG, and the Research Unit for Rare Diseases
On the occasion of Rare Disease Day, which was worldwide on February 28 this year, representatives of the clinical laboratory SPADIA (CEO RNDr. Martin Radina) informed about the successful ongoing collaboration with the Research Unit for Rare Diseases at the First Faculty of Medicine, Charles University in Prague, and the National Center for Medical Genomics in the field of diagnostics and research of rare genetically determined diseases (Prof. Stanislav Kmoch).
This important collaboration expands diagnostic possibilities, improves care for patients and families affected by rare diseases, and supports further research that gives patients and their families hope for accurate diagnosis, prevention, and treatment.
The link to the press release can be found here.
13.05.2026
Invitation to the lecture by Martina Živná:
The lecture will be about a new pathogenetic mechanism of non-classical Fabry disease with a renal phenotype.
When: May 5, 2026
Time: 9:00 AM
Where: Purkyňův ústav, Albertov 4, Prague 2
20.04.2026
Added an updated overview of 2026 publications linked with the support of NCMG as of 4/2026. – 01.04.2026
Invitation to online lectures of the 5th International ADTKD Summit: "A Time for Action"
Presented by: Rare Kidney Disease Foundation
- Friday 6.3.2026 -10:00-13:00 (EST) / 16:00-19:00 (CET) - Science Program
Do not miss the lecture by Martina Živná!
- 6.3.2026 - 10:30 (EST) / 16:30 (CET) - Martina Živná: Diagnostic Strategies for Rare Kidney Diseases
- Saturday 7.3.2026 - 10:00-13:00 (EST) / 16:00-19:00 (CET) - Patient Program
Link to the registration is here.
Attendance is FREE, and you can attend one or both days of the event.
We cordially invite you to (virtually) attend RKDF's 5th International ADTKD Summit: A Time for Action on Friday, March 6th and Saturday, March 7th from 10:00 AM to 1:00 PM Eastern Standard Time.
During the Science Program on March 6th, you'll hear about the latest research on ADTKD, including therapeutic advances, and learn how nephrologists can seamlessly integrate genetic testing into their clinical practice.
During the Patient Program on March 7th, you'll learn what is involved in bringing a treatment for a rare disease to market and the importance of patient registries in advancing the science and treatment of ADTKD. You'll also have the opportunity to share your concerns and ask questions of experts around genetic testing.
Opening both programs will be patients and their family members sharing what it's like to live with ADTKD, the challenges in finding a diagnosis, and the urgency around finding a treatment to halt this insidious disease from ravaging future generations.
06.03.2026
Invitation to Rare Diseases Day 2026: “Together for Hope: From Diagnosis to Treatment”
Czech Centre for Phenogenomics (CCP), in cooperation with National Centre for Medical Genomics (NCMG), Rare Diseases Czech Republic (RDCR), and other partners, invites both the professional and general public to two upcoming events connecting science, patients, and research on the occasion of Rare Disease Day 2026:
When: 12 March 2026, 14:00–18:00 – Open House at CCP
Where: Czech Centre for Phenogenomics, BIOCEV Campus Průmyslová 595, Vestec
Visitors can look forward to meeting scientists, guided laboratory tours, information about diagnostics, and an interactive programme for children.
Come and see where hope for new treatments begins.
A great discussion was held among leading Czech experts on the future of diagnostics and rare disease research within the RDCR programme. Topics included genetic diagnostics, the CzechGenome project, funding opportunities, and further research directions.
More information is available at:
WEB (CZ): https://www.genova-terapie.cz/2026/02/spolecne-pro-nadeji-od-diagnozy-k-lecbe/
WEB (EN): https://www.phenogenomics.cz/2026/02/rare-disease-day-2026-events-rare-close-to-science/
04.03.2026
Added an updated overview of 2026 publications linked with the support of NCMG as of 2/2026. – 27.02.2026
Added list of publications linked with NCMG for the year 2025 and updated overview of ongoing projects with the support of NCMG infrastructure - 09.01.2026
Martina Živná received the Czech Minister of Health Award for Medical Research and Development in 2025 for her successful project Identification and Characterization of Genetic Factors of Hereditary Tubulointerstitial Kidney Disease II.
The awards were presented on December 9, 2025, honoring 10 top-rated research projects supported by the Czech Health Research Council (AZV ČR) and successfully completed in 2024. The awards were presented by Minister of Health Prof. Vlastimil Válek together with the agency's chairman, Prof. Ondřej Slabý.
More details are here.
Photo: Kmoch Team (HT)
18.12.2025
Added updated list of recent publications linked with NCMG for the period 1-11/2025 - 27.11.2025
Updated overview of ongoing projects with the support of NCMG infrastructure, publications from the period of 1-6/2025 and list of available technologies - 30.06.2025
Added updated list of 2024 publications and recent publications for the period 1-4/2025 - 10.04.2025
Updated list of current projects - 28.1.2024
Added list of publications supported by NCMG for the year 2024 - 13.12.2024
We have updated the database of genomic variants. Now containing 1799 samples, of which 1003 are women and 796 are men. All coding variants and variants affecting splicing are included. - 26/02/2024
Added updated list of recent publications linked with NCMG for the year 2023 - 05.01.2024
New dedication for the next period: "The National Center for Medical Genomics" or "The NCMG research infrastructure" (LM2023067) added. - 30.10.2023
Added updated list of recent publications and projects linked with NCMG for 2023 - 11.8.2023
Updated list of projects linked with NCMG - 14.02.2023
New publications supported by NCMG added - 16.01.2023
New publications supported by NCMG added - 22. 11. 2021
NCMG and COVID-19 testing - 9. 10. 2020
Stanislav Kmoch on know-how that made testing for Covid safer
Professor Stanislav Kmoch has been researching rare diseases for thirty years. In the current coronavirus pandemic, knowledge from his laboratory, which is part of the NCMG, has significantly contributed to the development of a new procedure for the diagnosis of covid-19 and other viral diseases. "It's a secondary but nice result of our many years of research into rare diseases," Kmoch describes the creation of the university spin-off GeneSpector.
GeneSpector provides a unique solution for rapid Covid-19 detection.
- viRNAtrap™ Collection Tube inactivates the infectious agents developed for save operations at ambient temperature
- viRNAtrap™ Extraction Kit is a best-in-class solution for fast and high throughput extraction at any open automated platform or when using manual work-up
- high-quality PCR kits for fast COVID-19 detection
- triplex COVID-INFA-INFB (to be launched in October 2020)
New publications supported by NCMG added - 22. 10. 2020
Since 2020, NCMG has a new project number: LM2018132. Please, use in your publications this number. - 28. 5. 2020
New publications supported by NCMG added - 28. 5. 2020
NCMG and COVID-19 testing - 14. 4. 2020
A wide academic community has joined an initiative that aims to help with laboratory testing for COVID-19. Researchers from several departments of the 1st Medical Faculty of Charles University - from the Department of Pediatrics and Adolescent Medicine, Department of Biochemistry and Experimental Oncology, Department of Biology and Medical Genetics and Department of Immunology and Microbiology and the National Center of Medical Genomics developed in 14 days functional system for the determination of covid19 in clinical material. This system has been used by the VFN for two weeks to test employees and admitted patients. As stated by prof. Ing. Stanislav Kmoch, CSc., Currently about 100 samples are examined daily. The much higher capacity of the established procedure is so far limited by the logistics of sampling, administration and the demands on the processing of potentially infectious material. Employees of the 1st Faculty of Medicine of Charles University thus help to increase the capacity in testing for COVID-19 in the Czech Republic and together with VFN significantly contribute to managing epidemiological problems in this difficult time, adds another scientist, prof. RNDr. Libuše Kolářová, CSc.
- IMTM declares war against COVID-19
- CEITEC Scientists Are Developing Faster Tests for COVID-19 Disease
New publications supported by NCMG added - 6. 1. 2020
New publications supported by NCMG added - 5. 11. 2019
We published a new version of Czech database of genomic variants - it contains 1055 samples (442 males a 613 females) - 23. 9. 2019
New publications supported by NCMG added - 23. 9. 2019
New publication supported by NCMG added - 19. 6. 2019
New publication supported by NCMG added - 11. 6. 2019
New publications supported by NCMG added - 4. 6. 2019
We upgraded our NGS sequencing workflow by installing a new high throughput sequencer - Illumina NovaSeq 6000 - 4. 3. 2019
New publications supported by NCMG added - 5. 12. 2018
New publications supported by NCMG added - 20. 9. 2018
New publications supported by NCMG added - 12. 7. 2018
New version of our database of genomics variants - containing 468 samples from common population without severe diseases (252 males and 216 females) - 27. 4. 2018
New publications supported by NCMG added - 25. 4. 2018
We would like to invite you to attend and participate in the 2nd HVP Variant Effect Prediction Training Course that will be held from Monday 6 to Wednesday 8 November in the beautiful historic city of Prague, Czech Republic. More information and registration at http://vep.variome.org/. You can still register for a discounted price - Earlybird ends 11.59 PM CET 31st August 2017!
New publications supported by NCMG added - 28. 8. 2017
Two teams from NCMG have received Minister of Health of Czech Republic Awards for research and development in medicine for 2016. Team of doc. Ing. Stanislav Kmoch, CSc. was awarded for the project " Identification of the genetic and molecular basis of rare genetic disorders using novel genomic methods" and the team of prof. RNDr. Šárka Pospíšilová, Ph.D. for the project "Molecular characterization of B-cell receptors and its relation to the evolution of genetic changes in chronic lymphocytic leukemia." - 16. 12. 2016
We would like to introduce you our Scientific Advisory Board - 2. 12. 2016
Please visit our new social networks profiles on Facebook and Twitter. - 4. 10. 2016