Prof. Ing. Stanislav Kmoch, CSc.
- Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in
- Head of the research programme Development of Therapeutic and Diagnostic Procedures in
Number of articles (according to SCOPUS) : 65
Number of citations (according to SCOPUS) : < 1150
H-index : 20
Number of patents : 2
Stanislav Kmoch (1963) has a long term interest in genetics and biology of human diseases. In his work he has developed and implemented wide array of biochemical, genetic, molecular biology, genomic, nextgeneration sequencing and bioinformatic methods which he succesfully applied in various projects leading to identification of causal genes and characterisation of molecular and structural basis of more than a dozen of genetic diseases. In several cases his work led to the development and application of novel diagnostic methods and therapeutical approaches.
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). He established and lead the group of medical genomics and bioinformatics at the Institute for Inherited Metabolic Disorders. In last 10 years he was PI of over 10 research and educational projects.
During his carrer he has established intensive international collaboration in research of rare genetic kidney diseases, defects of purine de novo synthesis and neuronal ceroid lipofuscinoses. He is member of the editorial board of the journal Molecular Genetics and Genomic Medicine and member of The American Society of Human Genetics and The American Association for the Advancement of Science.
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