< Back to previous page

Project

Detection of novel genes for frontotemporal lobar degeneration using whole-genome sequencing.

Worldwide, almost 35.6 million people are suffering from dementia, accounting for 3.4% of all deaths in high-income countries. The possibilities for prevention and treatment of dementia are limited and the risk of developing the condition rises steeply with age resulting in an increasing number of patients suffering from this disease. Global population ageing will result in huge increases in the number of patients with dementia, which is estimated to double every 20 years. In Belgium alone, around 163 500 are suffering from dementia. My PhD project is mainly focusing on frontotemporal lobar degeneration (FTLD), which is, after Alzheimer disease, the most common cause of dementia in patients younger than 65 years. FTLD is a clinically heterogeneous group of conditions caused by neuronal degeneration of the frontal and temporal lobes of the brain. Main clinical characteristics include changes in personality and behavior, impairment of language, and executive dysfunction. About 50% of the FTLD patients show familial history of dementia, suggesting that genetic predisposition plays a major role in the etiology of FTLD. In the autosomal dominant inherited forms of FTLD, less than 50% of the patients are due to mutations in known FTLD genes, i.e. C9orf72, MAPT, GRN, VCP and CHMP2B. In approximately 50% of the familial patients the causal gene remains unknown, demanding further investment in genetic and genomic studies of FTLD. The main objective of this project is to identify the missing genes by means of whole genome sequencing in familial FTLD patients. The complete genome sequence of related and unrelated familial FTLD patients are analyzed for the presence of segregating and/or shared sequence variants
Date:1 Oct 2013 →  30 Sep 2015
Keywords:FUNCTIONAL GENOMICS, FRONTOTEMPORAL LOBAR DEGENERATION, GENETICS, NEURODEGENERATION
Disciplines:Genetics, Systems biology, Molecular and cell biology, Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing