Medical genetics

Medical genetics involves the application of genetics to medical care, including research on the causes and inheritance of genetic disorders, and their diagnosis and management.

Latest Research and Reviews

News and Comment

  • Comments and Opinion |

    The Nordic region, comprising primarily Denmark, Estonia, Finland, Iceland, Norway and Sweden, has many of the necessary characteristics for being at the forefront of genome-based precision medicine. These include egalitarian and universal healthcare, expertly curated patient and population registries, biobanks, large population-based prospective cohorts linked to registries and biobanks, and a widely embraced sense of social responsibility that motivates public engagement in biomedical research. However, genome-based precision medicine can be achieved only through coordinated action involving all actors in the healthcare sector. Now is an opportune time to organize scientists in the Nordic region, together with other stakeholders including patient representatives, governments, pharmaceutical companies, academic institutions and funding agencies, to initiate a Nordic Precision Medicine Initiative. We present a roadmap for how this organization can be created. The Initiative should facilitate research, clinical trials and knowledge transfer to meet regional and global health challenges.

    • Pål Rasmus Njølstad
    • , Ole Andreas Andreassen
    • , Søren Brunak
    • , Anders D. Børglum
    • , Joakim Dillner
    • , Tõnu Esko
    • , Paul W. Franks
    • , Nelson Freimer
    • , Leif Groop
    • , Hakon Heimer
    • , David M. Hougaard
    • , Eivind Hovig
    • , Kristian Hveem
    • , Anu Jalanko
    • , Jaakko Kaprio
    • , Gun Peggy Knudsen
    • , Mads Melbye
    • , Andres Metspalu
    • , Preben Bo Mortensen
    • , Juni Palmgren
    • , Aarno Palotie
    • , Wenche Reed
    • , Hreinn Stefánsson
    • , Nathan O. Stitziel
    • , Patrick F. Sullivan
    • , Unnur Thorsteinsdóttir
    • , Marc Vaudel
    • , Eero Vuorio
    • , Thomas Werge
    • , Camilla Stoltenberg
    •  & Kári Stefánsson
    Nature Genetics 51, 924-930
  • News and Views |

    Non-invasive prenatal diagnostics allow for the successful identification of paternally inherited and de novo mongenic diseases using circulating cell-free DNA.

    • Nancy B. Spinner
    •  & Ian D. Krantz
    Nature Medicine 25, 361-362
  • Editorial |

    The simplicity and powerful capabilities of CRISPR have led to an explosion of genome-editing applications. Their continued development should be nurtured by scientific and legal environments that discourage and penalize irresponsible uses of the technology.