Raphaela T. Goldbach‐Mansky

This study shows that proteasome mutations in CANDLE syndrome disrupt neuronal development by increasing polyamine levels through ODC dysregulation, and inhibiting ODC can reverse these effects.

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

This study identifies a STING-STAT3-SOX18 axis driving EndMT and epigenetic reprogramming in SAVI lung fibrosis, suggesting STING as a therapeutic target.

This study identifies de novo LYN variants causing constitutive Lyn kinase activation, leading to neutrophilic vasculitis and liver fibrosis, and shows therapeutic response to Src kinase inhibitors.