Rob Harkness
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robharkness.bsky.social
Rob Harkness
@robharkness.bsky.social
36 followers 140 following 2 posts
Postdoc interested in rare disease genetics. Manchester, UK.
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robharkness.bsky.social
Delighted to share our paper out now at Lancet Neurology which describes a novel genetic #rarecondition

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series

www.thelancet.com/journals/lan...
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
We describe an autosomal recessive, acute-onset paediatric axonal neuropathy, seemingly triggered by infection, that affects individuals with biallelic RCC1 variants. In these children, the disease ca...
www.thelancet.com
July 18, 2025 at 10:11 AM
Reposted by Rob Harkness
jamesfasham.bsky.social
Rob Harkness #ESHG2025

Genetic risk of acute-onset axonal neuropathy following infection

RCC1 is novel AR #DiseaseGene

Onset ~18m #GuillianBarre-like
Clinical course #ALS-like

Proteins reduced thermal stability
🪰 reduced survival to paraquat stress

papers.ssrn.com/sol3/papers....
May 26, 2025 at 8:58 AM