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....

Congratulations to the chILDRANZ study @ajaffe1 @UNSW @AusGenomics results now out in @ojrarediseases 🫁🧬

👉Yield of trio WES (17%) much higher than virtual panel (3%) as often 🫁disease not isolated

👉New candidate gene: VIP ? #DiseaseGene

https://rdcu.be/cVopP

And first new #DiseaseGene out now @AJHGNews #AcuteCareGenomics 🔎🧬

Variants in CAMKD2 causing NDD and dilated cardiomyopathy @DiseaseGenes

👉https://authors.elsevier.com/c/1iUAZgeX6LP2

https://www.cell.com/ajhg/fulltext/S0002-9297(23)00448-2