Investigating Neurodevelopmental Disorders Through the Lens of UPF3B Syndrome

Project Code

MRCNMH26Ca Ngo

Project Type

Wet lab

Research Theme

Neuroscience and Mental Health

Project Summary Download

Summary

Neurodevelopmental disorders (NDDs) like autism and ADHD affect millions, yet the underlying causes remain unclear. This PhD project investigates how mutations in the gene UPF3B, linked to NDDs, impair DNA repair in neurons. Using advanced techniques including CRISPR gene-editing, biochemical assay, nanopore DNA sequencing, and stem cell-derived neurons, the student will explore a novel disorder mechanism at the intersection of genome stability and brain development. The project offers multidisciplinary training in genetics, biochemistry, genomics, neuroscience, and bioinformatics. This work could contribute to improved diagnosis and understanding of NDDs, making a real-world impact on one of today’s most pressing health challenges.

Lead Supervisor

Dr Greg Ngo

Lead Supervisor Email

ngog@cardiff.ac.uk

University Affiliation

Cardiff