Håkan Thonberg

Affiliated to research

About me

Molecular Geneticist, working with clinical investigations of inherited dementia and research on familial forms of Alzheimer disease and frontotemporal dementia.

Research description

My scientific focus are on early-onset familial dementias and genetics. We do mutational screening for identifying possible monogenetic causes in known causative genes for AD and FTD-ALS. The analysis includes looking for single-nucleotide changes, copy-number variations and repeat-expansions by using different techniquies such as next-generation sequeincg, Sanger sequencing, quantitative real-time PCR, repeat-primed PCR and MLPA. For identifying new causative genes in families with inherited dementia, we use whole-exome sequencing, WES, and variant-analysis/predictions pipelines.

Academic honours, awards and prizes

NEWS 17 Nov-2014: Co-applicant for granted project on human whole genome sequencing of 100 AD/FTD patients, SciLifeLab National Projects

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