I work at the University College London (UCL) in the Department of Molecular Neuroscience. My research is about the brain and neurodegenerative disorders with a particular focus on Frontotemporal Dementia (FTD). FTD is a devastating brain disorder that affects either one’s behavioural and executive activities or language skills or both.
I am currently funded by Alzheimer’s Society to further the genetics of FTD. To date the genetic understanding of FTD is limited and its translation into functional understanding of the molecular mechanisms of disease is still inefficient.
I had the opportunity to lead the first international genome wide association study (GWAS) in clinical FTD (https://www.ncbi.nlm.nih.gov/pubmed/24943344). This not only led to the identification of novel genetic risk factors in FTD, but also to the institution of the International FTD-Genomics Consortium (IFGC), which I currently coordinate. Together with the IFGC and thanks to the support of Alzheimer's Society I am studying the genetics of close to 6000 FTD patients worldwide.
Although genetics is the main focus of my research, I also work in close contact with bioinformaticians and functional biologists to develop new computer-based procedures and pipelines for the analysis of DNA alterations in FTD patients to simplify the translation of such genetics finding into identification and validation of risk-pathways and drug targets for patient benefit.
Therefore, the first goal of my research is to expand on the genetic landscape of FTD identifying additional genes and genetic risk markers that predispose people to develop FTD. The second, and perhaps more challenging, aim is to model the effect of these genetic alterations through computational approaches, highlighting the molecular cascade from ‘genetic alterations to impacted cellular processes’ that eventually lead to neurodegeneration.
Besides that this pipeline might universally be helpful for the study of any condition for which there is/are a genetic link(s), I am convinced that this multidisciplinary approach will help our scientific community to speed-up the process to develop preventive and therapeutic measures for dementia and to ultimately provide solutions for the healthcare system and patient benefit.