Emilie is a PhD student studying common and rare genetic variation in neurodevelopmental disorders.
My research is focused on the role of variants modifying the penetrance of rare variants and splicing in neurodevelopmental disorders, using data from the Deciphering Developmental Disorders (DDD) project and Genomics England (The 100,000 Genomes Project).
Although thousands of rare disorders are caused by single, deleterious, protein-coding variants, patients harboring the same variant can show differing phenotypes, or similar phenotypes with variable severity and expressivity. Incomplete penetrance and variable expressivity are major reasons why interpreting rare variants in Mendelian disease genes is difficult.
An additional reason is that we have an incomplete understanding of which variants are likely to affect gene function. Due to the huge burden of “variants of unknown significance” (VUS), there is a great need to develop molecular biomarkers of individual disorders. These could then be used as an intermediate phenotype to help determine whether a VUS is pathogenic or benign. For disorders which are due to mutations in genes affecting splicing, global patterns of splicing changes may be a useful biomarker.
Prior to my PhD, I worked at the Stanley Center for Psychiatric Research at the Broad Institute as an Associate Computational Biologist under the supervision of Professors Elise Robinson and Karestan Koenen.
There, my research was focused on the genetic architecture and epidemiology of autism spectrum disorders (ASD). My main projects were focused on the contribution of both common polygenic and rare variation to ASD, the “female protective effect”, and changes in the genetic architecture of ASD over time.