Daniel Nilsson

Daniel Nilsson

Affiliated to Research
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
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About me

  • An engineer by training, with PhD studies involving the genomics of
    trypanosomatid parasites, mainly in bioinformatics. Post doctoral studies
    brought laboratory experience as well as more genomics and bioinformatics
    expertise in parasitology and then human infection biology. As a clinical
    laboratory scientist and clinical researcher I have studied human genetic
    disease - and help diagnose patients with rare genetic conditions.
    Being an engineer by training is useful for tackling problems in
    modern medicine, where massive amounts of data can be analysed to the
    benefit of patients. I seek to deepen our understanding of disorders at the
    molecular level, and in doing so further our basic understanding of
    ourselves.

Research

  • I investigate disease at the molecular level. The journey towards treatment
    for the rare genetic disorders begins with a molecular diagnosis. We
    understand the molecular cause of some 4000 out of at least 8000 rare genetic
    disorders. With a background in large scale genomics and bioinformatics
    development, I help improving diagnostics for the known disease genes. While
    establishing and improving MPS technology in the clinic, we also explore and
    investigate the remaining diseases for answers.

Articles

All other publications

Grants

Employments

  • Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025

Degrees and Education

  • Doctor Of Philosophy, Department of Cell and Molecular Biology, Karolinska Institutet, 2006

Supervisor

  • Kristine Bilgrav Saether, 2021
  • Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
  • Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE, https://openarchive.ki.se/articles/thesis/Structural_genomic_variation_in_human_disease/26917915?file=48962779
  • Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing

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