UCM
Research/art/teacher profile of a person
Name and surname:
 RNDr. Michal Konečný, PhD.
Email:
 michal.konecny@ucm.sk
Homepage:
 http:\\
Fakulta/Univerzita:
FPV UCM - Faculty of Natural Sciences
Pracovisko:
UBB - Ústav biológie a biotechnológie

I. - Basic information

I.1 - Surname
Konečný
I.2 - Name
Michal
I.3 - Degrees
PhD.
I.4 - Year of birth
1979
I.5 - Name of the workplace
Ústav Biológie a Biotechnológie, Oddelenie Biológie, Fakulta prírodných vied, UCM
I.6 - Address of the workplace
University of Ss. Cyril and Methodius, Námestie J. Herdu 2, Trnava, 917 01, Slovak Republic
I.7 - Position
special assistant
I.8 - E-mail address
michal.konecny@ucm.sk
I.9 - Hyperlink to the entry of a person in the Register of university staff
I.10 - Name of the study field in which a person works at the university
Applied Biology
I.11 - ORCID iD
0000-0002-8523-3633

II. - Higher education and further qualification growth

II.1 - First degree of higher education
II.a - Name of the university or institution
Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia
II.b - Year
2001
II.c - Study field and programme
Biology
II.2 - Second degree of higher education
II.a - Name of the university or institution
Department of Genetics, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia
II.b - Year
2003
II.c - Study field and programme
Genetics
II.3 - Third degree of higher education
II.a - Name of the university or institution
Department of Genetics, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia
II.b - Year
2009
II.c - Study field and programme
Human Genetics
II.4 - Associate professor
II.5 - Professor
II.6 - Doctor of Science (DrSc.)

III. - Current and previous employment

III.a - Occupation-position III.b - Institution III.c - Duration
Laboratory diagnostician, Head of the department Department of Clinical Genetics, St. Elizabeth Cancer Institute 2003-2016
Professional director GHC Genetics, Prague 2017
Professional director Laboratory od Genomics Medicine, GHC GENETICS SK, Bratislava 2018-2025
Professional assistant Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius 2019-actually
Professional assistant Department of Genetics, Faculty of Natural Sciences, Comeniu University, Bratislava 2022-actually
Head of Laboratory Laboratory of Genomic Medicine, AGEL Gen, s.r.o. 2025-actually

IV. - Development of pedagogical, professional, language, digital and other skills

IV.a - Activity description, course name, other IV.b - Name of the institution IV.c - Year
Specialization in the specialized field Laboratory and Diagnostic methods in Clinical Genetics Slovak Medical University in Bratislava, Limbová 12, 833 03 Bratislava 2010
Specialization in Healthcare Management and Financing Slovak Medical University in Bratislava, Limbová 12, 833 03 Bratislava 2017
Allocation of scientific qualification level IIa Slovak Academy of Sciences, Bratislava 2021
Training course for next generation sequencing and applications Roche, Mannheim, GER 2013
Educational training for sequencing applications on ABI 3130 Applied Biosystems, Manchester, UK 2006
Member of the working group of the Slovak Ministry of Health for rare diseases Ministry of Health Slovak Republic 2010
Rare disease workshop EUCERD, Roma, IT 2012
Rare Diseases Europe Roundtable EUCERD, Brussels, BEL 2016
Chairman of the professional genetics society Slovak Society of Medical Genetics, Slovak Medical Society 2018

V. - Overview of activities within the teaching career at the university

V.1 - Overview of the profile courses taught in the current academic year according to study programmes
V.1.a - Name of the profile course V.1.b - Study programme V.1.c - Degree V.1.d - Field of study
New trends, procedures and methods in the study of living organisms Molecular Biology 3rd degree Biotechnology
Genomics for PhD students Molecular Biology 3rd degree Molecular Biology
V.2 - Overview of the responsibility for the delivery, development and quality assurance of the study programme or its part at the university in the current academic year
V.3 - Overview of the responsibility for the development and quality of the field of habilitation procedure and inaugural procedure in the current academic year
V.4 - Overview of supervised final theses
V.4.1 - Number of currently supervised theses
V.4.a - Bachelor's (first degree)
0
V.4.b - Diploma (second degree)
1
V.4.c - Dissertation (third degree)
1
V.4.2 - Number of defended theses
V.4.a - Bachelor's (first degree)
1
V.4.b - Diploma (second degree)
4
V.4.c - Dissertation (third degree)
0
V.5 - Overview of other courses taught in the current academic year according to study programmes

VI. - Overview of the research/artistic/other outputs

VI.1 - Overview of the research/artistic/other outputs and the corresponding citations
VI.1.1 - Number of the research/artistic/other outputs
VI.1.a - Overall
82
VI.1.b - Over the last six years
41
VI.1.2 - Number of the research/artistic/other outputs registered in the Web of Science or Scopus databases
VI.1.a - Overall
29
VI.1.b - Over the last six years
6
VI.1.3 - Number of citations corresponding to the research/artistic/other outputs
VI.1.a - Overall
169
VI.1.b - Over the last six years
71
VI.1.4 - Number of citations registered in the Web of Science or Scopus databases
VI.1.a - Overall
169
VI.1.b - Over the last six years
71
VI.1.5 - Number of invited lectures at the international, national level
VI.1.a - Overall
0
VI.1.b - Over the last six years
0
VI.2 - The most significant research/artistic/other outputs

Bľandová G, Murgašová M, Markocsy A, Baldovič M, Krasňanská G, Eliaš V, Repiská V, Konečný M. Pearson syndrome with atypical presentation of short stature and atypical limb proportions - First reported case in Slovakia. Mitochondrion. 2025 Nov;85:102079. doi: 10.1016/j.mito.2025.102079. Epub 2025 Aug 18. PMID: 40834967

Raffáč Š, Gabzdilová J, Krasňanská G, Konečný M. GATA2 deficiency in an adult with alveolar proteinosis, infections, lymphadenopathy with granulomatosis, and immune deficiency: case report. Front Immunol. 2025 Nov 13;16:1608392. doi: 10.3389/fimmu.2025.1608392. eCollection 2025. PMID: 41322420

Repiská G, Konečný M, Krasňanská G, Celušáková H, Belica I, Rašková B, Kopčíková M, Keményová P, Ostatníková D, Lakatošová S. Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia. Genes (Basel). 2025 Jul 28;16(8):893. doi: 10.3390/genes16080893. PMID: 40869941

Lakatošová S, Miklošovičová M, Konečný M, Wachsmannová L, Krasňanská G, Kopčíková M, Keményová P, Tomka M, Lisyová J, Ostatníková D, Repiská G. 1 Mb Deletion in 10q26.3 and the Likely Pathogenic Variant in the TRIO Gene: A Twin Case Study Challenging Their Role in Autism Diagnosis. Case Rep Pediatr. 2025 Sep 15;2025:8859738. doi: 10.1155/crpe/8859738. eCollection 2025. PMID: 40988857

Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Comparison of the ABC and ACMG systems for variant classification. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. PMID: 38778080

Krasňanská, Gabriela, Bľandová, Gabriela, Baldovič, Marián, Andrejková, Mária, Konečný, Michal. Novel missense DNA variants in the IL2RG gene identified in Slovak X-SCID patients: a case report [elektronický dokument]. DOI 10.7759/cureus.75872 In: Cureus. Rockville Pike: National Center for Biotechnology Information, 2024, Roč. 16, č. 12, e75872, s. 1-8 [online]. ISSN (online) 2168-8184. [angličtina

Bľandová, Gabriela, Janoštiaková, Nikola, Kodada, Dominik, Pastorek, Michal, Lipták, Róbert, Hodosy, Július, Šebeková, Katarína, Celec, Peter, Krasňanská, Gabriela, Eliáš, Vladimír, Wachsmannová, Lenka, Konečný, Michal, Repiská, Vanda, Baldovič, Marián. Mitochondrial DNA variability and Covid-19 in the Slovak population [elektronický dokument]. DOI 10.1016/j.mito.2023.101827. In: Mitochondrion. Oxon: Elsevier. Elsevier Science, 2024, Roč. 75, č. March, art. no. 101827, s. [1-9]

Konecny, M., Kosova, K., Tilandyova, P., ...Markus, J., Ciernikova, S. The results of multigene panel sequencing in Slovak HBOC families. Neoplasma, 2021, 68(3), pp. 652–664

Konecny, M., Markus, J., Waczulikova, I., ...Novosadova, H., Majer, I. The value of SHOX2 methylation test in peripheral blood samples used for the differential diagnosis of lung cancer and other lung disorders. Neoplasma, 2016, 63(2), pp. 246–253.

VI.3 - The most significant research/artistic/other outputs over the last six years

Lakatošová S, Miklošovičová M, Konečný M, Wachsmannová L, Krasňanská G, Kopčíková M, Keményová P, Tomka M, Lisyová J, Ostatníková D, Repiská G. 1 Mb Deletion in 10q26.3 and the Likely Pathogenic Variant in the TRIO Gene: A Twin Case Study Challenging Their Role in Autism Diagnosis. Case Rep Pediatr. 2025 Sep 15;2025:8859738. doi: 10.1155/crpe/8859738. eCollection 2025. PMID:

Repiská G, Konečný M, Krasňanská G, Celušáková H, Belica I, Rašková B, Kopčíková M, Keményová P, Ostatníková D, Lakatošová S. Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia. Genes (Basel). 2025 Jul 28;16(8):893. doi: 10.3390/genes16080893. PMID: 40869941

Pearson syndrome with atypical presentation of short stature and atypical limb proportions - First reported case in Slovakia. Mitochondrion. 2025 Nov;85:102079. doi: 10.1016/j.mito.2025.102079. Epub 2025 Aug 18. PMID: 40834967

Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Comparison of the ABC and ACMG systems for variant classification. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. PMID: 38778080

Bľandová, Gabriela, Janoštiaková, Nikola, Kodada, Dominik, Pastorek, Michal, Lipták, Róbert, Hodosy, Július, Šebeková, Katarína, Celec, Peter, Krasňanská, Gabriela, Eliáš, Vladimír, Wachsmannová, Lenka, Konečný, Michal, Repiská, Vanda, Baldovič, Marián. Mitochondrial DNA variability and Covid-19 in the Slovak population [elektronický dokument]. DOI 10.1016/j.mito.2023.101827. In: Mitochondrion. Oxon: Elsevier. Elsevier Science, 2024, Roč. 75, č. March, art. no. 101827, s. [1-9]

Krasňanská, Gabriela, Bľandová, Gabriela, Baldovič, Marián, Andrejková, Mária, Konečný, Michal. Novel missense DNA variants in the IL2RG gene identified in Slovak X-SCID patients: a case report [elektronický dokument]. DOI 10.7759/cureus.75872 In: Cureus. Rockville Pike: National Center for Biotechnology Information, 2024, Roč. 16, č. 12, e75872, s. 1-8 [online]. ISSN (online) 2168-8184. [angličtina]

Konecny, M., Kosova, K., Tilandyova, P., ...Markus, J., Ciernikova, S. The results of multigene panel sequencing in Slovak HBOC families. Neoplasma, 2021, 68(3), pp. 652–664

VI.4 - The most significant citations corresponding to the research/artistic/other outputs

Circulating cell-free DNA methylation as biomarker for lung cancer detection: a systematic review and metaanalysis of diagnostic studies. Machado DI, Brito-Rocha T, Salta S, Monjardino T, Henrique R, Jerónimo C. Syst Rev. 2025 Jun 2;14(1):120. doi: 10.1186/s13643-025-02860-w. PMID: 40457503

Cancer genomics and bioinformatics in Latin American countries: applications, challenges, and perspectives. Torres-Narvaez ES, Mendivelso-González DF, Artunduaga-Alvarado JA, Ortega-Recalde O. Front Oncol. 2025 Jul 9;15:1584178. doi: 10.3389/fonc.2025.1584178. eCollection 2025. PMID: 40703551

The impact of pathogenic BRCA1/2 tumor mutation status on high grade serous epithelial ovarian cancer survival outcome: A multicenter study from Indonesia. Sutrisno S, Marlina D, Tjandraprawira KD, Adinda Adriansyah PN. SAGE Open Med. 2024 Nov 20;12:20503121241299849. doi: 10.1177/20503121241299849. eCollection 2024. PMID: 39575313

Tracking updates in clinical databases increases efficiency for variant reanalysis. Li L, Tian X, Woodzell V, Gibbs RA, Yuan B, Venner E. Genet Med Open. 2024 Mar 9;2:101841. doi: 10.1016/j.gimo.2024.101841. eCollection 2024. PMID: 39669589

Novel Semi-Nested Real-Time PCR Assay Leveraging Extendable Blocking Probes for Improved SHOX2 Methylation Analysis in Lung Cancer. Phuong NA, Dao TT, Pham PB, Nguyen UD, Nguyen

VI.5 - Participation in conducting (leading) the most important research projects or art projects over the last six years

Building a Competence Center for Research and Development in the Field of Molecular Medicine [ITMS 26240220071] - EU ŠF

APVV-20-0070, Sex-specific genetic-endocrine perspective on autism spectrum disorders

VII. - Overview of organizational experience related to higher education and research/artistic/other activities

VIII. - Overview of international mobilities and visits oriented on education and research/artistic/other activities in the given field of study

IX. - Other relevant facts

IX.a - If relevant, other activities related to higher education or research/artistic/other activities are mentioned

President of the Slovak Society of Medical Genetics (SSLG), SMS

Chairman of the Editorial Board, Journal of Medical Genetics and Diagnostics, ISSN 2989-3615 (online), ISSN 2989-350X (printed edition)

Date of last update
2026-02-08