Emma Ehn
Doktorand
E-postadress: emma.ehn@ki.se
Besöksadress: BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postadress: H1 Neurobiologi, vårdvetenskap och samhälle, H1 Neurogeriatrik Graff, 171 77 Stockholm
Om mig
- 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.
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
Forskningsbeskrivning
- 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
(WGS).
Undervisning
- 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.
Anställningar
- Doktorand, Neurobiologi, vårdvetenskap och samhälle, Karolinska Institutet, 2023-2026
Examina och utbildning
- Läkarexamen, Karolinska Institutet, 2013