Christopher Grunseich

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

Human brain organoids show that a TDP-43 mutation causes RNA mis-splicing and neuronal stress in ALS.

The paper demonstrates that allele-specific siRNA can effectively silence a dominant SETX mutation in ALS4, restoring R-loop levels in patient cells.

The paper identifies an enhancer RNA, AANCR, regulated by R-loops, m6A modification, and RNA abasic sites that influences APOE expression and Alzheimer's disease susceptibility.