Fiona Ducotterd

drugMR uses multi-omics data to identify potential drug targets and adverse effects by integrating GWAS and pQTL statistics with various statistical methods.

This study shows that PSEN1 mutations disrupt regulated intramembrane proteolysis in astrocytes, leading to enhanced inflammatory responses and contributing to familial Alzheimer's disease progression.

The paper develops a CRISPR-CAS9 platform with machine learning to study PINK1-mitophagy in Parkinson's disease using iPSC-derived neurons, identifying key genes and validating their roles.

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.

The paper shows Arc protein is specifically expressed in dendrites of layer 2/3 in association cortex during slow-wave sleep in vitro, linked to intrinsically bursting cells in layer 5.

This study investigates the effects of the PLCγ2 S707Y hypermorphic variant on human microglia, showing increased enzymatic activity but reduced phagocytosis and cytokine production, and suggests therapeutic strategies should mimic the beneficial effects of the P522R variant.