Caroline Graff

Group members

Steinunn Thordardottir, PhD-student

Mette Bergman, PhD-student

Huei-Hsin Chiang, postdoc

Lina Keller, PhD

Annica Rönnbäck, researcher

Anne Kinhult-Ståhlbom, PhD

Anna Sandebring, postdoc

Charlotte Forsell, technician

Lena Lilius, technician

Inga Volkman, technician

Håkan Thonberg, PhD

Marie Fallström, genetic counsellor

Jenny Björkström, genetic counsellor

Mimi Westerlund, postdoc

Anna-karin Lindström, technician

Project

Genetics of neurodegenerative diseases

The general aim of the genetic studies is to provide novel information regarding the impact of genes on risk for neurodegenerative diseases in general and AD in particular. The information will be translated into clinical practice where applicable since C. Graff also offers genetic counseling for dementias in the Memory clinic, Karolinska University Hospital Huddinge. We have close collaboration with the Neuropathology department, the epidemiology section of the Dept NVS and within the Swedish Brain Power initiative.

We are particularly interested in the genetics of familial forms of dementia such as familial Alzheimer disease and frontotemporal dementias.

Mutation screening in ALS, FTD and AD Our goal is to characterize the Swedish patients suffering from ALS, FTD and AD with respect to mutations in the known disease genes. We will study the biochemical properties of the identified mutations using functional studies. We are also performing genotype-phenotype correlation studies using clinical data as well as neuropathological findings. The findings will be translated into clinical practice to provide guidelines on how likely it is that a particular patient has a heritable form of the disease.

Case-control association studies in AD  candidate gene approach We use a large case-control sample series for association studies of genes which code for proteins involved in the pathoetiology of AD. These genes may be future targets for risk prediction and early diagnostic markers.

Genetic risk genes for AD and longevity- longitudinal population based samples These studies are performed in close collaboration with the epidemiology section at the Dpt NVS. The purpose is to understand the contribution of genes on the risk for AD and also expected lifetime in the general population. The overall aim is to provide information such that the health of the Swedish population can be improved by primary intervention.

The Brain Bank at Karolinska Institutet

The team also investigates the neuropathological correlates of clinical neurodegenerative diseases by studies on human brain material form the Brain Bank at KI which is managed and coordinated by the research team.