Translational research in neurodegenerative dementia and related disorders
Neurodegenerative dementia such as Alzheimer disease and frontotemporal lobar degeneration will likely pose an increasing social and economic impact on the European and global population due to the ever-increasing mean age of our population.
There is a current paucity of effective prophylactic treatments and as such they represent one of the only major classes of widespread diseases with increasing mortality rates in the developed world.
Our main goal is to contribute to the understanding of the molecular basis of neurodegenerative brain diseases such as Alzheimer disease and related dementia and to translate this information to clinical practice. We will undertake genome and exome projects to identify novel rare, high penetrant disease mutations in multiplex and nuclear families, as well as genealogically unrelated patients with extreme phenotypes. The entire spectrum of variations will be explored i.e. simple DNA sequence variations as well as complex structural and copy number variations (CNV), coding and noncoding regulatory variations, etc.
Our major future strategic research trajectories aim at increasing investment in sampling and biobanking, increasing investment in next generation sequencing and –omics technologies allowing integration of multiple layers of biological information for enhanced gene- and protein discovery, establishing disease-related functional genomics and cell biology and introducing translational research.