Autism genomics
Whole genome analysis
Our team is working on a “Discovery to clinical utility of rare mutations by whole genome sequencing in neurodevelopmental conditions” project that is funded by Science Foundation Ireland (SFI) by the SFI Starting Investigator Research Grant (SIRG), grant number 15/SIRG/3324.
With this whole genome analysis project, we aim to reveal rare variants associated with autism that could inform future personalised medicine research. ​The recruitment of participants for this research study is now closed and the research team are working on the data analysis.​
​PhD candidate Jacob Kennedy's work focuses on the identification of novel genetic risk factors and modifiers, that aid in stratification of patients with neurological disease and neurodevelopmetnal conditions, with a focus on non-coding genomic variation.
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PhD Candidate Enya Nordon is currently working on investigating the genetic link between sleep and neurodevelopmental conditions with a focus on genome-wide analysis of rare tandem repeat expansions.
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