Category: Papers

Posted on

How an mTOR pathway gene causes epilepsy in a pedigree dating from 1727

Congratulations to Philip Iffland and the Peter Crino Lab –with help from PouLab grad student Andrea Romanowski among the collaborator team– for the publication of a massive piece of work just out in Brain, spanning the fields of human genetics, cell biology, genome editing, electrophysiology, and brain development to identify the gene (NPRL3) and mechanisms that cause epilepsy in affected patients.

“NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold” Brain, 2022

Posted on

Ryan’s article on advancing scientific excellence through inclusivity at the NIH BRAIN Initiative is out in Neuron!

Lab alum, Ryan R. Richardson, now a AAAS STP fellow at the NIH BRAIN Initiative, together with colleagues deputy Director Andrea C. Beckel-Mitchener, Director John Ngai, and program Director Devon C. Crawford, published a paper today in Neuron, outlining how BRAIN’s mission for scientific excellence is empowered by tapping into the full spectrum of diverse talents and perspectives. We’re grateful for your work in advancing opportunities and excelling innovative neuroscience research through inclusion and diversity!

https://www.cell.com/neuron/fulltext/S0896-6273(21)00836-9

Posted on

Congrats to Ryan and co. for “Cas9 fusions for precision in vivo editing” out on the bioRxiv!

The lab’s first pub is a nifty piece of synth bio for genome editing the brain. Richardson et al. describe a platform to test and develop new high-precision genome editing reagents. Some of our new CRISPR fusions, like eRad18-Cas9-CtIP with linear donors, showed up to 45-times higher accuracy at point-mutation editing compared to vanilla CRISPR. Another step toward direct in vivo knockin and in situ gene therapy approaches!

https://www.biorxiv.org/content/10.1101/2020.07.15.199620v1