The main aim of our work is to understand the genetics underlying both rare familial forms of neurological disease, as well as more common complex forms. We use recently developed genetic technologies, like genome wide genotyping arrays and next generation sequencing, to identify genes and specific mutations that are involved in disease.
Over the past few years we have been involved in identifying several genetic risk factors for common diseases such as Alzheimer’s or Parkinson’s diseases. They have generally resulted from large, multi-national collaborative studies. We have also been involved in identifying disease causative genes in several familial forms of disease. One of the most significant findings is the identification of mutations in TREM2 as the cause of a fronto-temporal dementia-like phenotype and also as a strong risk factor for Alzheimer’s disease.
Currently we are involved in large-scale next-generation sequencing efforts that generally try to identify new disease-causing mutations and rare risk factors (similar to TREM2).
We are also studying cases originating from populations where homozygosity is more common. This allows us to identify novel genes by using homozygosity mapping as a guide for the sequencing results.
We are also performing large scale re-sequencing of previously identified GWAS hits, with the aim of pinpointing specific disease modulating genetic variants. These are the main approaches we currently employ. We have been applying these to diseases like Parkinson’s, Alzheimer’s, Fronto-temporal dementia, Dementia with Lewy Bodies, among others with significant success.
The work we perform is highly collaborative in nature. The map below shows our current network of close collaborations with whom we are currently developing projects.