Emma Ehn

Emma Ehn

Affiliated to Research
Visiting address: BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: H1 Neurobiologi, vårdvetenskap och samhälle, H1 Neurogeriatrik Graff, 171 77 Stockholm

About me

  • PhD student and resident at Clinical Genetics investigating the genetics and
    genomics in hereditary neurodegenerative disorders/dementia.
    I am a resident at Clincial Genetics at Karolinska University Hospital since
    2016, where I see patients and families during genetic counselling sessions.
    In 2019 I got registered as a PhD student in Caroline Graff's group:
    Translational genetics of neurodegenerative diseases. Ever since medical
    school at KI, I have had an interest in the central nervous system and the
    diseases affecting it, in particular cognitive neurodegenerative
    disorders/dementias. It was first when I got into the field of clinical
    genetics as a physician that I got to know about the hereditary forms of
    dementia. I am now grateful to have the opportunity to combine these two
    fields of interest: dementia and genetics. Improved technologies, like whole
    genome sequencing, has changed this field and allows more patients to get a
    molecular diagnosis. Understanding the genetic background of these diseases
    contributes to a better care for patients and families. It also increases our
    knowledge of the disease mechanisms which hopefully will lead to a curative
    treatment in the future.
    * Medical School at KI: 2008-2013
    * Intern at Skaraborgs sjukhus, Skövde 2014-2016
    * *PhD courses:*
    * Research School in molecular medicine for clinicians (KI 16 wks course
    programme) - 2020 -2022
    * Rare disease genomics (2981) autumn 2021
    * Inherited cancer syndromes (2110) spring 2016


  • I am a PhD student in Caroline Graff's group: Translational genetics of
    neurodegenerative diseases, and we study genetics and neuropathology in
    neurodegenerative disorders, in particular Alzheimer disease and
    frontotemporal lobar degeneration (FTLD). The group is part of international
    collaborations and consortia, such as the Genetic Frontotemporal Initiative
    (GENFI) study. Graff group also works in close collaboration with Clinical
    Genetics and the Unit for hereditary dementia. This close collaboration
    between research and clinic improves the care for these patients and families
    as the chance of finding a genetic molecular cause increases, and when
    finding a genetic variant genetic counselling can be offered. My research
    project "Genomic studies of FTD and related neurodegenerative disorders" aims
    at investigating the genetic background in hereditary neurodegenerative
    disorders using different technologies such as digital droplet PCR (ddPCR),
    repeat primed PCR (RP-PCR), sanger sequencing and whole genome sequencing


  • Lecturer and workshop organizer at KI course Neurogenetics (code 2600) .
    Lecture title: "Hereditary dementia". Workshop title: "Gene hunting".
    Autumn 2020, 2021.
    Lecturer at KI course Alzheimers Disease - Clinical features and pathogenic
    mechanisms (code 3117). Lecture title: "Hereditary Alzheimer's disease and
    genetic counselling". Spring 2021, 2022.


  • Affiliated to Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, 2023-2026

Degrees and Education

  • Degree Of Master Of Science In Medicine, Karolinska Institutet, 2013

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