Prof. Ing. Stanislav Kmoch, CSc.
Prof. Stanislav Kmoch (1963) has a long-term interest in the genetics and biology of human diseases. In his work he has developed and implemented a wide array of biochemical, genetic, molecular biology, genomic, next-generation sequencing and bioinformatic methods which he successfully applied in various projects leading to identification of causal genes and characterization of molecular and structural basis of more than 30 previously uncharacterized genetic diseases. In several cases his work led to the development and application of novel diagnostic methods and therapeutical approaches.
Citation report according to Scopus (10/2025):
- Number of articles: 165
- Number of citations: >6400
- H-index: 44
- cumulative impact factor > 1100
- Number of patents: 3
He graduated from the Institute of Chemical Technology in Prague (Faculty of Food and Biochemical Technology, 1988), defended CSc. (PhD.) thesis at the First Faculty of Medicine, Charles University in Prague (2001). Since 2015 he has been served as adjunct associate professor at the Wake Forest School of Medicine in North Carolina (USA) and as visiting scientist at the Broad Institute of MIT and Harvard in Boston (USA) In 2017 he became a professor of Genetics and Biology, Charles University in Prague. In 2022 he was elected as a member of The Learned Society of the Czech Republic.
Prof. Kmoch established and currently leads the group of medical genomics and bioinformatics at the Research Unit for Rare Diseases at the 1st Faculty of Medicine of Charles University. of. In the last 20 years he has been PI of over 20 research and educational projects and 10 times as co-PI. In total 40 projects were completed. 7 projects are currently active.
Main research findings
Contribution to elucidation of the genetic basis and etiology of more than 30 previously uncharacterized genetic diseases including defects of purine de novo synthesis (ADSL, PAICS), crystalline cataract (gamma-D crystalin), mucopolysaccharidosis type IIIC (TMEM76), mitopathies (TMEM70, POLRMT), chronic kidney diseases (UMOD, MUC1, REN, SEC61A1, APOA4, SAA1, mttRNA, NDUFAF6, RMND1), neuronal ceroid lipofuscinossis type 4 (DNAJC5), Rotor syndrome (combined defect of OATP1B1 a OATP1B3), GAPO syndrome (ANTXR1), cardiomyopathies (PLD1, FHL1), protein glycosylation deficiency (Nogo-b receptor), Oliver-McFarlane syndrome (PNPLA6), posterior polymorphous corneal dystrophy (OVOL2, GRHL2), and neurodevelopmental disease (VPS15, MADD, ZMYM3, PEX14) and bipolar disorder (NTRK1).
During his career he has established intensive international collaboration in the research of rare genetic kidney diseases, defects of purine de novo synthesis and neuronal ceroid lipofuscinoses. He is a member of the editorial board of the journal Molecular Genetics and Genomic Medicine and a member of The American Society of Human Genetics and The American Association for the Advancement of Science.
Cooperation with application sector
- Member of the advisory board of BioVendor group;
- Chief Science Officer of the GeneSpector s.r.o., a spin-off company of the Charles University
- Scientific advisor of start-up companies SeveriDx, Lab-on_Card and MasKidney
Most significant publications: Stanislav Kmoch in PubMed