Rami I. Aqeilan

The paper identifies replication environments associated with DNA breakage in cancer cell lines by integrating genomic and transcriptomic data.

This study models DLG4 mutations in SHINE syndrome using iPSC-derived neurons, showing PSD-95 deficiency and electrophysiological changes, and demonstrates rescue via AAV9-mediated gene delivery.

This study identifies optimal parameters for neuron-targeted WWOX gene therapy in a mouse model of WWOX-related epileptic encephalopathy, showing durable rescue with a defined therapeutic window and dose.

This study shows that super-enhancer activity influences transcription stress and DNA break repair dynamics in cancer, with γH2AX marking linked to DSB turnover and mutagenic vulnerability.

This study identifies DSB patterns in BRCAmut carriers to reveal early oncogenic processes linked to HR deficiency.

This study identifies WWOX as a critical regulator of oligodendrocyte differentiation and myelin repair, showing its interaction with SOX10 and its role in myelin regeneration.

This study identifies WWOX mutations' impact on neurogenesis and neuronal function in human organoids, showing gene therapy can restore function.

The paper investigates the role of R-loops and Topoisomerase 1 in forming transcriptional DSBs at hypertranscribed genes and links these breaks to cancer development.

This study shows that gene therapy using an AAV vector to restore WWOX expression in neurons rescues multiple neurological defects in Wwox-null mice.

This study uses brain organoids to model WOREE, a severe epileptic encephalopathy, identifying CNS abnormalities and showing potential therapeutic rescue via WWOX expression.