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prof. dr. J.K. (Hans Kristian) Ploos van Amstel Full Professor

  • Section genome diagnostics

J.K. Ploos van Amstel

Contact

Research Programs

Biography

Hans Kristian Ploos van Amstel (1959) is laboratory specialist clinical genetics, head of genome diagnostics (clinical cytogenetics and DNA diagnostics), 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 is 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.

Side Activities

  • Chair

    Dutch Society for Clinical Genetic Laboratory Diagnostics (VKGL) (2011-2019)

    The Society for Clinical Genetics Laboratory Diagnostics ( VKGL ) is the professional association of clinical genetics laboratory specialists: clinical molecular geneticists, clinical cytogeneticists biochemical and clinical geneticists

     

    Member of Board & Secretary

    Dutch Society of Human Genetics (NVHG) (2009 – 2017)

    The Dutch Society for Human Genetics (NVHG) is the scientific association for everyone in the Netherlands who is active in the research field of human genetics.

      

    Member of Board

    Dutch Society for Clinical Chemistry and Laboratory Medicine (NVKC) (2014 – Present)

    The Netherlands Society for Clinical Chemistry and Laboratory Medicine (NVKC is the scientific professional association of laboratory specialists and aims to further the development and improvement of the individual patient care, to broaden and deepen the discipline of clinical chemistry, to optimally prepare new generations of laboratory specialists in their future role in the care process, to prepare new generations of doctors prepare to optimize the use of laboratory diagnostics, provide a challenging work / learning environment for new generations of laboratory staff /technicians.

     

    Member of Board & Treasurer

    Stichting Simonsfonds (2012 – Present)

    The Simons Fund Foundation was set up on 18th September 1975 by the Dutch Society of Human Genetics (then NAV now NVHG) with a legacy from J.E. Simons, LLM.
    The aim of the foundation is to encourage the study of heredity in man and it aims to realise this by providing financial support for meetings and research.

     

    Chair & Member of Board

    Federation of Medical Laboratory Specialisms (FMLS) (2011-present)

    The Federation of Medical Laboratory Specialisms is a collaboration of professional groups in medical laboratory diagnostics

    We strive for affiliation by adjacent professional groups.  Our cooperation takes shape through activities in the following areas: development of joint training and in-service training modules, sharing scientific knowledge,  national profiling of the field, ensure well-qualified laboratory staff, central administrative facilities.

     

    Member of Board & Treasurer

    Society of Foundations Clinical Genetics in The Netherlands (VSKG) (2011-2019)

    The purpose of the foundation is to represent the common interests of its affiliated centers for heredity research and associations in the field of clinical genetics. The objective also includes: promoting genetic research, promoting information about heredity, promoting the training of those professionals working in the centers, supporting patient information, the promotion of operational aspects and operational interests of the Centers for Genetic Research (including finance, regulations, privacy and education), supporting the Centers and Associations.

     

  • 2016

    Prinicipal Investigator project WGS-first approach: ‘One-test-fits-all’ to diagnose rare genetic disorders (PL dr. LELM Vissers)

     

    2018-2019

    Member of the Board of the Gorter and de Graaff prize (NVKC)

     

    2018

    Member Advisoy Board Ethical and legal issues of personalized medicine (ELSI-PM) 01-05-2018 (Main applicant Dr. W.J. Dondorp)

     

    2019

    Partner and PI NWA project: SYMPHONY: Orchestrating personalised treatment in patients with a bleeding disorder. WP04 Advanced diagnostics for platelet function disorders (PFD)

Research Output (243)

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity

Cooiman M. I., Kleinendorst L., Aarts E. O., Janssen I. M.C., van Amstel H. K.Ploos, Blakemore A. I., Hazebroek E. J., Meijers-Heijboer H. J., van der Zwaag B., Berends F. J., van Haelst M. M. feb 2020, In: Obesity Surgery. 30 , p. 470-477 8 p.

Detection of disease causing repeats by multi-locus CRISPR-Cas enrichment and nanopore sequencing

Elferink M. G., Renkens I. J., Dooijes D., van Roosmalen M. J., Raimondeau E., Bowen R., Heron A. J., Graham J. E., van Amstel H. Ploos, Kloosterman W. P., van Gassen K. L. okt 2019, In: European Journal of Human Genetics. 27 , p. 1658-1658

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases

Kant Benjamin, Carbo Ellen C., Kokmeijer Iris, Oosterman Jelske J.M., Frenkel Joost, Swertz Morris A., Ploos van Amstel Johannes K., Aróstegui Juan I., Koudijs Marco J., van Gijn Mariëlle E. 20 aug 2019, In: Journal of Molecular Diagnostics. 21 , p. 943-950 8 p.

Detection of disease causing repeats by multi-locus CRISPR-Cas enrichment and nanopore sequencing

Elferink Martin, Renkens Ivo , Dooijes Dennis, van Roosmalen Mark, Ploos van Amstel Hans Kristian, Kloosterman Wigard, van Gassen Koen 16 jun 2019,

Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2:A three-generation clinical report

Ross Jamila, Fennis Willem, de Leeuw Nicole, Cune Marco, Willemze Annemieke, Rosenberg Antoine, Ploos van Amstel Hans Kristian, Créton Marijn, van den Boogaard Marie José 1 jun 2019, In: Molecular Genetics and Genomic Medicine. 7 6 p.

Genetic obesity:Next-generation sequencing results of 1230 patients with obesity

Kleinendorst Lotte, Massink Maarten P.G., Cooiman Mellody I., Savas Mesut, Van Der Baan-Slootweg Olga H., Roelants Roosje J., Janssen Ignace C.M., Meijers-Heijboer Hanne J., Knoers Nine V.A.M., Ploos Van Amstel Hans Kristian, Van Rossum Elisabeth F.C., Van Den Akker Erica L.T., Van Haaften Gijs, Van Der Zwaag Bert, Van Haelst Mieke M. 1 sep 2018, In: Journal of Medical Genetics. 55 , p. 578-586 9 p.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

Mitter Diana, Lemke Johannes R., Platzer Konrad, Jamra Rami, Ploos van Amstel Hans K., van der Smagt Jasper J., Stegmann Alexander P.A., Stumpel Constance T.R.M., Stevens Servi J.C., Oberndorff Katrin, Marcelis Carlo L., Cogné Benjamin, Vincent Marie, Simonic Ingrid, Hague Jennifer, Park Soo Mi 1 aug 2018, In: Annals of Neurology. 84 , p. 200-207 8 p.

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

Vrijenhoek Terry, Middelburg Eline M, Monroe Glen R, van Gassen Koen L I, Geenen Joost W, Hövels Anke M, Knoers Nine V, van Amstel Hans Kristian Ploos, Frederix Gerardus W J 29 jun 2018, In: European Journal of Human Genetics. 26 , p. 1566-1571

Bovenop de toekomst

Ploos van Amstel JK mrt 2018, In: Laboratoriumgeneeskunde. 1 , p. 27-28 2 p.

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura

Kanhai Danny, Mulder René, Ploos van Amstel Hans Kristian, Schutgens Roger, Lukens Michael, Tamminga Rienk Y.J. 1 jan 2018, In: Pediatric Blood and Cancer. 65

All Research Output (243)
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