Hans Kristian Ploos van Amstel

Hans Kristian Ploos van Amstel (1959) is laboratory specialist clinical genetics, head of genome diagnostics (clinical cytogenetics and DNA diagnostics 1991-2021), tutor and deputy head of the Department of Genetics at the University Medical Center Utrecht. At Leiden University, he studied biology and got his PhD on the molecular genetics of thrombosis. In 1991, he joined the Clinical Genetics Center Utrecht that in 1999 became a department of the UMC Utrecht. He was chair of the Dutch Society for Clinical Genetic Laboratory Diagnostics (VKGL), member of the board of the Dutch Society for Human Genetics, of the Netherlands Society for Clinical Chemistry and Laboratory Medicine (NVKC) and of the Simons Foundation. He and his section perform diagnostics and patient related research with the focus on detecting and interpreting variations in the genome of patients and family members with suspected genetic diseases. His ambition is to use this information that is hidden in the genome for a better patient care.

The aim of the research of the genome diagnostics section is improve detection and interpretation of genomic variations and identification of disease genes and implement this in the clinic for a better diagnosis and treatment. We propagate this focus beyond the traditional regions of attention so that the medical technology capabilities and their application can be fully exploited in patient care.

The elucidation of the human genome has laid the basis for further development of genetic research. Techniques as Sangersequencing, SNP-array technology to detect genomic aberrations and since a few years Massively Parallel Sequencing (Next Generation Sequencing) are indispensable. The potential for mutation detection is unprecedented and almost limitless. These developments are a powerful instigator of research into the origin, the mode of inheritance and the impact of genomic changes and their relationship to disease (genotype-phenotype relationship). The challenge we are now facing is, besides the further perfection of detecting abnormalities, the interpretation of these mutations. Datasharing, bioinformatics and functional studies are hereto instrumental. The research activities of the section genome diagnostics are strongly patient-related (genotype-phenotype relationship, gene discovery) in close collaboration with the sections research and clinical genetics and other medical disciplines inside and outside the UMC Utrecht. Furthermore, the section actively takes part in the national network of genome diagnostics laboratories organized within the Dutch society of laboratory specialist clinical genetics. The research is on the genetics of rare diseases with a focus on cancer, epilepsy, immune deficiencies, inflammatory diseases, cardiac diseases, defects in primary hemostasis, developmental disorders, intellectual disability, kidney diseases, hypodontia, haematological malignancies, obesity. The section is recognized as training institute for laboratory specialists clinical genetics and supports the training programs of clinical geneticists and genetic counsellors. We are heavily involved in genetics education within the curricula of medicine and biomedical sciences at the UMC.