Rachel Coneys

This paper develops a scalable human neuronal model of 4R tauopathy with endogenous seed-competent tau for drug discovery.

The paper identifies reduced PUFA levels in FTD/ALS models and shows neuronal PUFA supplementation improves survival and reduces neuronal death.

The paper describes the generation and validation of C9orf72 repeat expansion knock-in iPSC lines for ALS and FTD research, showing they differentiate into neurons and display disease-related pathologies.

This study demonstrates that CRISPR-CasRx reduces C9orf72 repeat RNAs and DPRs in vitro and in vivo, suggesting its therapeutic potential for ALS/FTD.

This study uses Mendelian randomization to investigate the causal role of lipids and statin interventions on multiple sclerosis risk and severity, finding HDL-C increases risk while RAC2 reduces it.

The paper generates C9orf72 DPR knock-in mice and identifies an extracellular matrix signature in C9ALS/FTD that is conserved across species and protected by TGF-β1 and COL6A1.