Stanislav Kmoch PhD

Stanislav Kmoch: First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague; head of the research program Development of Diagnostic and Therapeutic Procedures at BIOCEV and head of the Genomics and Bioinformatics Laboratory at Institute for Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital.

He 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, next-generation sequencing and bioinformatic methods which he successfully 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 therapeutic approaches.