Research focus
The purpose of our research is to provide a cure or prevention.
Our aim is to develop markers of disease progression and disease staging as well as understand the natural history of the full phenotypic spectrum in neurodegenerative diseases that affect cognition and behaviour
We study the human genetics and neuropathology of neurodegenerative diseases, in particular Alzheimer disease (AD), Frontotemporal dementia (FTD) and FTD associated with amyotrophic lateral sclerosis (ALS). Our research is translational from patients and families to the laboratory and back.
Our activities include:
- Clinical follow-up studies of families with genetic FTD±ALS (genfi.org) and AD to describe the pathological staging of disease
- Recruit clinical treatment trials for genetic forms of FTD within the framework of (thefpi.org)
- Whole genome sequencing to identify known and unknown genetic factors in early onset cognitive diseases
- the Swedish FTD Initiative (frontallobsdemens.se)
- FTD-ALS Research Network at KI | Karolinska Institutet
- We participate in global association studies in case-control cohorts in AD and FTD
- Neuropathological studies of human brain tissue
- We implement our research in close collaboration with the out-patient cognitive clinics and genetic counseling at the Unit for hereditary dementia (Mottagning för ärftliga demenssjukdomar) at Clinical Genetics and Genomics, Karolinska University Hospital, Solna.
- We have large sample collections of DNA, fibroblasts, RNA, plasma, serum, CSF and postmortem brain tissue
- We are participating in several international research consortia such as GENFI (Genetic Frontotemporal dementia Initiative, genfi.org), FPI (FTD Prevention Initiative, thefpi.org), IGAP (International Genomics of Alzheimer’s Project), ECEOD (European Consortium on Early Onset Dementia), EADC (European Alzheimer Disease Consortium) FTD-GWAS, ICFGC (International Frontotemporal Dementia Genomics Consortium), Pick’s disease International Consortium, and the FTLD-TDP WGS consortium