Dorit Hoffmann, PhD, is working as a Project Researcher at the University of Eastern Finland, A.I. Virtanen Institute for Molecular Science. At the Molecular Neurodegeneration research group the research focuses on the genetic background and molecular mechanisms underpinning neurodegenerative diseases, especially frontotemporal dementia (FTD). The research group utilizes a variety of in vitro and in vivo model systems and patient-derived cells and clinical data and samples.
“My research is focused on the hexanucleotide repeat expansion within the C9orf72 gene and its role in the disease mechanisms of frontotemporal dementia (FTD) and idiopathic normal pressure hydrocephalus (iNPH), using patient-derived skin fibroblasts as a model”, describes Dorit.
Basic research on the pathogenic changes at the cellular and molecular level will provide better understanding of the disease mechanisms, which may be utilized to develop novel treatments or biomarkers in the future. The C9orf72 hexanucleotide repeat expansion is the most common genetic cause of FTD in Finnish patients. Approximately half of the FTD patients have this particular genetic alteration. FTD is the second most common cause of dementia within the working-age population after Alzheimer´s disease (AD).
For more information about the Molecular Neurodegeneration research group, please visit: https://uefconnect.uef.fi/en/group/annakaisa-haapasalo-group-molecular-neurodegeneration/