We are focused on the development of novel diagnostic tools for a spectrum of brain abnormalities. To this end we are taking advantage of the latest developments in DNA sequencing, as well as technological advancements that allow the detection of submicroscopic deletions and duplications of genes. We are primarily employing whole exome sequencing (WES) and whole genome sequencing (WGS) to identify novel pathogenic variants.
We hope that our studies will lead to the identification of new genes that cause the diseases we are studying, broadening our understanding of the underlying molecular mechanisms of brain abnormalities. In addition, we hope that this study will help us to counsel affected families more accurately in the future with regards to the prognosis of the affected individuals and also the reproductive risks for the family members.