Marijne Vandebergh, PhD

Marijne Vandebergh, PhD, is a postdoctoral fellow at VIB-UAntwerp Center for Molecular Neurology in Antwerp, Belgium. Her CReATe Scholar project title is “Elucidating the genetic architecture of disease heterogeneity in Frontotemporal Lobar Degeneration through the investigation of genetic modifiers of disease onset”. 

One of the most common causes of early onset dementia in people younger than 65 years is frontotemporal dementia (FTD), which is also responsible for 10-20% of all dementias. FTD affects core human qualities, and places a high burden on people of working age. FTD is characterized by variability in onset age, disease duration, and clinical presentation, ranging from language deficits to personality changes and impaired motor function. One-third of patients show a strong family history, with most common genetic causes of FTD being autosomal dominant mutations in the progranulin (GRN) gene, the microtubule-associated protein tau (MAPT) gene and the chromosome 9 open reading frame 72 (C9orf72) gene. The disease risk imposed by autosomal dominant mutations is however subject to genetic modifiers, with as example the TMEM106B locus being a modifier of disease risk in GRN mutation carriers and C9orf72 repeat expansion carriers. Notwithstanding the identification of candidate loci, there is an urgent need to identify novel disease modifiers. 

The ambition of this project is to reveal the genetic factors that contribute to patient-to-patient heterogeneity in FTD. To this end, through a genome-wide association study in large FTD cohorts, novel genetic modifiers of onset age and clinical presentation will be investigated. This will provide novel insights in the contribution of genetics to variability in onset age and clinical presentation. 

Relevant Publications: Vandebergh M et al. (2024). Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration.