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Project

Investigating the contribution of causal genes in early-onset dementia.

Dementia is a devastating disorder with a wide range of symptoms, such as memory loss, cognitive impairment and changes in behavior, severe enough to affect the everyday life. There are 47 million of people leaving with dementia worldwide and this number will reach 131 million in 2050. As such, dementia represents a social and economic burden for the entire society. The most common subtype of dementia is Alzheimer's disease (AD) which accounts for 50% to 75% of all dementia patients.Important discoveries have led to the identification of genes linked to the AD etiology (APP, PSEN1, PSEN2). Despite these discoveries, which have happened 30 years ago, there is still no treatment available that can cure AD, nor slow its progression. It is therefore imperative to improve treatment and diagnosis and this will be possible through a better understanding of the disease causes. Importantly, there are several mutations in these Alzheimer genes of which the pathogenicity is unknown. Understanding pathogenicity of variants has great implications in the clinical practice, in terms of genetic counseling and inclusion of patients in clinical trials. Besides many efforts, assays to enable a clear discrimination between pathogenic and neutral variants are still missingThis project aims to unreveal the contributions of the mutations in these AD genes to the disease etiology. This is a first but essential step towards a more accurate clinical diagnosis and patients follow-up.
Date:1 Nov 2018 →  30 Apr 2019
Keywords:DEMENTIA
Disciplines:Genetics, Systems biology, Molecular and cell biology