Emilie is a PhD student with Drs. Hilary Martin and Daniel Gaffney, examining the role of variants modifying expression and splicing in neurodevelopmental disorders.
I graduated from Harvard University in 2015 with an A.B. in Cognitive Neuroscience and Evolutionary Psychology. I wanted to further understand the biology underlying brain disorders. In this pursuit, I began work at the Stanley Center for Psychiatric Research at the Broad Institute under the supervision of Drs. Elise Robinson and Karestan Koenen.
There, I was immersed in genetics, specifically 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 the disorder over time.
In 2018, I began my PhD at the University of Cambridge and the Wellcome Sanger Institute. I am currently co-supervised by Drs. Hilary Martin and Daniel Gaffney, focusing on the role of variants modifying expression and splicing in neurodevelopmental disorders, using data from the Deciphering Developmental Disorders (DDD) project and Genomics England.
While thousands of rare human disorders are caused by single, deleterious, protein-coding variants, many patients with the same variant can have differing phenotypes. Various lines of evidence from the DDD project and elsewhere suggest that common variants, and mutations in genes affecting splicing, play a role in risk for rare neurodevelopmental disorders. These are likely to be affecting penetrance of rare variants as well as phenotypic expressivity.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Nature genetics 2017;49;7;978-985
Paternal-age-related de novo mutations and risk for five disorders.
Nature communications 2019;10;1;3043