Emma Ehn

Emma Ehn

Doktorand

PhD student and resident at Clinical Genetics investigating the genetics and genomics in hereditary neurodegenerative disorders/dementia.

Om mig

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.

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). 

Pedagogiska meriter

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. 

 

Utbildning

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