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Searching for somatic de novo mutations in Semantic Dementia

Project summary

Semantic Dementia (SD) is a subtype of frontotemporal dementia and is characterized by severe language disturbances in which the understanding of spoken or written language is completely lost. It is caused by degeneration of nerve cells localized in the brain’s temporal lobe, which may indicate that localized changes in the DNA occur.
This project will focus on possible somatic de novo mutations (DNM) – genetic faults – in the brain that could cause SD. Such faults have already been indicated in a number of brain disorders such as autism and schizophrenia. Genetic faults will be identified using innovative methods, including ‘deep sequencing’ of the DNA from brain tissue of SD patients.


By learning more about the disease process, we will be able to identify starting points for the development of drugs to delay or halt SD.

More detailed information

Principal Investigator:

Prof. dr. John van Swieten

Role Erasmus MC:



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Funding Agency: