University College London (UCL) is offering a prestigious, fully funded PhD opportunity at the UCL Queen Square Institute of Neurology, supervised by Professor Andrea Cortese. The doctoral project focuses on uncovering the genetic modifiers of RFC1-related CANVAS (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome), a complex neurodegenerative disorder. The research aims to understand why clinical presentations vary among patients with the same genetic expansion, contributing to foundational knowledge of disease progression and paving the way for novel therapeutic strategies.

The successful candidate will join a world-leading laboratory specializing in genomic medicine and neurogenetics, located in the heart of London. The research program employs a multidisciplinary approach, utilizing Genome-Wide Association Studies (GWAS) to identify genetic modifiers and long-read sequencing to resolve complex repeat expansions. Functional validation will be performed using CRISPR-Cas9 gene editing in iPSC-derived sensory neurons, providing a human cellular model for studying neurodegeneration. This ensures rigorous technical training in advanced bioinformatics and stem cell technology within a translational research framework.

Applicants should have a strong background in genetics, neuroscience, or a related quantitative field, and demonstrate a proactive drive to solve complex biological puzzles. The fully funded position covers tuition fees and offers a competitive stipend, allowing the researcher to focus entirely on achieving significant scientific milestones in repeat expansion disorders. The application deadline is 28 February 2026. Interested candidates should review the project requirements and submit their materials through the official UCL recruitment portal. For more information, visit the project link provided.

Keywords: Genomic Medicine, Neurogenetics, Genetics, Neuroscience, GWAS, CRISPR-Cas9, iPSC, Sensory Neurons, Bioinformatics, Stem Cell Technology, Repeat Expansion Disorders, CANVAS, RFC1, Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome.