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09.12.2023

Kmoch Stanislav

Prof. Ing., CSc.
Born 25 September, 1963 in Prague

  • Medical biology and genetics
  • Member of the Learned Society since 2022

Educational and professional preparation

  • 1988 – Engineer of chemistry; Institute of Chemistry, Prague
  • 2001 – Candidate of Sciences (PhD eq.); First Faculty of Medicine, CUNI, Prague 
  • 2013 – Associate professor; Genetics&Biology, First Faculty of Medicine, CUNI, Prague
  • 2017 – professor; Genetics&Biology; Charles University Prague

Employment and academic positions

  • 1989 – research scientist, General Faculty Hospital, Prague
  • 1996 – research scientist First Faculty of Medicine, CUNI, currently Group leader; Research Unit for Rare Diseases
  • 2013 – Head of the research programme Development of Therapeutic and Diagnostic Procedures in Biotechnology and Biomedicine Center of the Academy of Sciences and Charles University in Vestec
  • 2015 – Adjunct associate professor, Dept. of Internal Medicine, Section of Nephrology, Wake Forest School of Medicine, North Carolina, USA
  • 2015 – Visiting scientist, Broad Institute of MIT and Harvard, Boston, USA  

Membership in selected domestic scientific bodies

  • 2014 – Internal Scientific Board, BIOCEV
  • 2014 – Advisory Board, of the Biomedical Center of Faculty of Medicine in Pilsen

Membership and positions in selected international organizations and societies

  • Editorial board, Molecular Genetics and Genomic Medicine
  • Member, American Society of Human Genetics
  • Member, American Association for the Advancement of Science

Notable awards

  • 1999, 2007, 2012, 2016 – Awards of the Minister of Health of the Czech Republic for scientific achievements
  • 2017 – Annual award of J. V. Koštíř; Czech Society for Biochemistry and Molecular Biology

Selected publications

  • Sikora J, Kmochová T, Mušálková D, Pohludka M, Přikryl P, Hartmannová H, Hodaňová K, Trešlová H, Nosková L, Mrázová L, Stránecký V, Lunová M, Jirsa M, Honsová E, Dasari S, McPhail ED, Leung N, Živná M, Bleyer AJ, Rychlík I, Ryšavá R, Kmoch S. A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis. Kidney Int. 2021 Sep 21:S0085-2538(21)00867-X. doi: 10.1016/j.kint.2021.09.007. Online ahead of print. PMID: 34560138; IF:10,612
  • Autosomal dominant tubulointerstitial kidney disease. Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ. Nat Rev Dis Primers. 2019 Sep 5;5(1):60. doi: 10.1038/s41572-019-0109-9. IF 32.274
  • Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A. Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy. Cell. 2019 Jul 25;178 IF 32.216
  • Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK; Care4Rare Canada. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat Commun. 2015 Jan 9;6:5614. IF 10,742
  • Park EJ, Grabińska KA, Guan Z, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Sovová J, Jozsef L, Ondrušková N, Hansíková H, Honzík T, Zeman J, Hůlková H, Wen R, Kmoch S, Sessa WC. Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.Cell Metab. 2014 Sep 2;20(3):448-57 IF 16,747
  • Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vyletal P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum Ch, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in /MUC1/ missed by massively parallel sequencing. Nature Genetics 2013 Mar;45(3):299-303; IF 35,532; 
  • E. van de Steeg, V. Stranecky, H. Hartmannova, L. Noskova, M. Hrebicek, E. Wagenaar, A. van Esch, D.R. de Waart, R. Elferink, K.E. Kenworthy, E. Sticova, M. al-Edreesi, A.S. Knisely, S. Kmoch, M. Jirsa, A.H. Schinkel, Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver, Journal of Clinical Investigation, 122 (2012) 519-528. IF 15,430
  • L. Noskova, V. Stranecky, H. Hartmannova, A. Pristoupilova, V. Baresova, R. Ivanek, H. Hulkova, H. Jahnova, J. van der Zee, J.F. Staropoli, K.B. Sims, J. Tyynela, C. Van Broeckhoven, P.C.G. Nijssen, S.E. Mole, M. Elleder, S. Kmoch, Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis, American journal of human genetics, 89 (2011) 241-252. IF 10,603
  • M. Zivna, H. Hulkova, M. Matignon, K. Hodanova, P. Vylet'al, M. Kalbacova, V. Baresova, J. Sikora, H. Blazkova, J. Zivny, R. Ivanek, V. Stranecky, J. Sovova, K. Claes, E. Lerut, J.P. Fryns, P.S. Hart, T.C. Hart, J.N. Adams, A. Pawtowski, M. Clemessy, J.M. Gasc, M.C. Gubler, C. Antignac, M. Elleder, K. Kapp, P. Grimbert, A.J. Bleyer, S. Kmoch, Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure, American journal of human genetics, 85 (2009) 204-213. IF 12,303
  • A. Cizkova, V. Stranecky, J.A. Mayr, M. Tesarova, V. Havlickova, J. Paul, R. Ivanek, A.W. Kuss, H. Hansikova, V. Kaplanova, M. Vrbacky, H. Hartmannova, L. Noskova, T. Honzik, Z. Drahota, M. Magner, K. Hejzlarova, W. Sperl, J. Zeman, J. Houstek, S. Kmoch, TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy, Nature genetics, 40 (2008) 1288-1290.; IF: 30,259

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