Eline Wauters
Belgium
Identification of genetic modifiers of onset age in frontotemporal lobar degeneration: a family-based integrative approach
146,886
01/01/13
4.0
Alzheimer's disease & other dementias
family based integrative approach | frontotemporal lobar degeneration of FTLD | identification of genetic modifier. QTL
The aim of this PhD project is to identify genetic modifiers underlying the wide variation in onset age in frontotemporal lobar degeneration or FTLD. A quantitative trait locus (QTL) for onset age was identified in an extended Flanders-Belgian FTLD founder pedigree (DR8 family) segregating a causal mutation in the granulin gene. To identify the functional variation underlying the QTL, we apply a multi-omics approach combining whole genome sequencing with brain whole transcriptome and serum whole proteome analysis of members of the DR8 family