Academic Neurologist and MRC Clinician Scientist
My research focuses on the discovery and modelling of novel causes of neuromuscular diseases and ataxia, with particular interest in repeat expansion disorders and conditions caused by variations in non-coding DNA. I am also promoter of a collaborative initiative aiming to investigate genetic modifiers of hereditary amyloid neuropathy.
Key research output:
1. Cortese A, et al. Biallelic expansion of an intronic AAGGG repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658.
2. Cortese A, et al Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy. Nat Genet. 2020 May;52(5):473-481