Functional studies of rare genetic variants causally connected with Alzheimer's disease in the Polish population. Homo sapiens isolate:primary skin fibroblasts

The main objective of the project is to determine the physiological function of rare variants of sequence of genes causally associated with Alzheimer's disease (AD). The analyzed rare genetic AD variants are mutations in PSEN1 gene in patients with familial early-onset AD (fEOAD). The research group is recruited from among patients with causative mutations of EOAD and FAD, which are under hospital care of neurodegenerative disease diagnostic centers from all over Poland. As a research material primary skin fibroblasts were derived from fEOAD patients and age- and sex- matched controls.