H Thonberg

Håkan Thonberg

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Om mig

Molekylär Genetiker vid Geriatriska Enheten, Karolinska Univeristetssjukhuset, Huddinge


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.

Akademiska priser och utmärkelser

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