Genomics of Neurodegenerative Diseases and Aging (100-plus Study)
Department of Human Genetics, Amsterdam UMC.
An estimated 60-80% of the chance to develop Alzheimer’s disease depends on genetic factors, and similar percentages apply to other neurodegenerative diseases. Thousands of genetic risk factors are involved: some occur only very rarely in the population, others are more common. Each individual is uniquely vulnerable for developing diseases, which depends on the unique constellation of disease associated genetic variants they inherited from their parents. Therefore, it is important to know which genetic factors are involved: (1) they point towards the molecular processes underlying the disease, necessary to design accurate treatment strategies. (2) they can be used to predict the individual vulnerability for diseases, far before the onset of symptoms. In the future, when treatment options become available, predicting who is at risk before the onset of symptoms will allow timely and accurate treatment.
Unfortunately, only a fraction of disease associated genetic elements is currently known. To identify novel genetic elements, our group compares the genetic constellations of those affected by neurodegenerative diseases with cognitively healthy individuals. Next to identifying risk-increasing genetic variants, our group takes a unique approach: we aim to identify genetic elements that protect against neurodegenerative diseases. We conceived the 100-plus Study: an on-going prospective cohort study of centenarians who self-reported to be cognitively healthy, their first-degree family members and their respective partners. By investigating the genetic constellations and biomaterials of those who escaped disease until extreme ages, we aim to learn how cognitive decline can be avoided. Ultimately we hope that our findings will contribute in helping others achieve the same: reaching extreme ages without dementia. Read more about the 100-plus Study.
In our aim to translate our scientific findings directly to the clinic, our research section forms the bridge between the department of Human Genetics and the Alzheimer Center Amsterdam.