Molecular Genetics Study

Genomics is a key feature in the future of healthcare, with significant benefits including the development of personalised medicine and acceleration of discoveries in diagnoses and treatments. While the progress of genomics, in particular in neurodevelopmental disorders, is exciting, there are many challenges.

We are undertaking research in two ways

1. Leading Ireland’s efforts in the largest EU project
2. Leading research from discovery to clinical utility of genome sequencing in neurodevelopmental disorders, funded by Science Foundation Ireland, with Dr Lorna Lopez (Maynooth University)

UK Biobank Study 

Working title: “The Effect of Second-hits on Putative Psychiatric Phenotypes in Synaptopathy CNV carriers”

Project Leads: Prof. Louise Gallagher and Dr. Lorna Lopez

The aim of this project is to understand why carriers of genetic variants which disrupt cellular structures important for brain circuitry show such variable psychiatric phenotypes (behaviours) i.e. some show little or no symptoms whereas others show distinct psychiatric symptoms. The genetic variants and cellular structures in question are copy number variants (CNVs) and synapses respectively. Many Neuropsychiatric disorders (NPDs), such as autism, schizophrenia and epilepsy, are linked with disruptions in synaptic properties, also known as Synaptopathies. We will see whether genetic variants in other regions of the genome, i.e. second-hits, cause this variability in carrier phenotypes. How can the phenotypic impact of second-hits be measured? Our strategy will be to analyse the burden (the amount) and permutations of second-hits in Synaptopathy CNV carriers in the UK Biobank. By doing so, we believe we can estimate the phenotypic impact of second-hits in carriers. This project ties in with our AIMS-2-TRIALS study.