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Contact information

Email
beatrix.cardus@ndcn.ox.ac.uk

Research groups

Colleges

Wolfson College

Beatrix Cardus

DPhil Student

I am a DPhil student investigating the role of somatic instability of the C9orf72 hexanucleotide repeat expansion (HRE) in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. My research focuses on using long-read sequencing to examine HRE length, methylation, and instability across postmortem CNS tissue, cellular models, and longitudinal biofluids. By exploring the timing and impact of repeat instability, I aim to uncover mechanisms of selective neuronal vulnerability, contributing to a broader understanding of genomic instability in neurodegenerative diseases.