Tag: Andrea

Posted on

Neuroligin-3 paper out in Biological Psychiatry!

Just out, our paper on the biology of a synaptic adhesion molecule critically implicated in autism, published in Biological Psychiatry!

This massive paper includes outstanding work from scientists and collaborators at the Max Planck Institute for Multidisciplinary Sciences in Germany, and the University of Turin in Italy. It includes some of the first ever imaging of human synapses (spot the cool cup-shaped presynaptic terminals nestled in the human brainstem ????!), and identifies a molecular mechanism that determines the synaptic localization and transmitter-specificity of Neuroligin-3 between excitatory and inhibitory synapses in the brain. Congrats to everyone involved, a great way to end the year!

Region-Specific Phosphorylation Determines Neuroligin-3 Localization to Excitatory versus Inhibitory Synapses

 

Posted on

In utero prime editing of epilepsy variant on bioRxiv!

Modeling an ultra-rare epilepsy variant in wildtype mice with in utero prime editing

For all genome editing fans out there, check out our latest study on bioRxiv showcasing in utero prime editing to model an epilepsy patient with an ultra-rare GRIN variant. To our knowledge, this marks a significant milestone as the first prime editing of neurons in vivo!

Led by Colin Robertson in our lab, alongside Patrick Davis from Boston Children’s Hospital and Harvard Medical School, this ambitious project aims to make precision medicine more accessible to a broad patient population. This rapid workflow to generate personalized animal models with prime editing we hope is a step toward enabling individuals with rare genetic epilepsies to test and tailor pharmacotherapy on their personalized models, reducing the burdens of exploring treatments.

A big thank you for the collaborative efforts of the team, including our partner UM-MIND labs of Peter Crino, Phil Iffland, Steffen Wolff, Brian Mathur, and Ivy Dick; as well as our wonderful collaborators from U Pitt, Eldin Jašarević, and UC Anschutz, Tracy Bale! Thank you all for this achievement and the fantastic collaboration we enjoy!

We look forward to this research advancing toward bedside-to-bench applications!

Posted on

PouLab posters at SfN 2023

Calling all Neuroscientists!!!

Come check out all the PouLab posters at SfN 2023

Sunday pm session: “Genetic Techniques to Target and/or Manipulate Cells”, three back-to-back posters :

Monday am session “Animal Models of Epilepsy: Genetics and Pharmacology”:

Wednesday pm session “Mechanisms Underlying Axon Growth and Targeting”:

Celebrate neuroscience with us!!!

Posted on

Cas9-RC on the cover of The CRISPR Journal!

Ryan Richardson’s paper describing the development of Cas9-RC, a new CRISPR agent with increased performance for knockin, is out in the October 2023 issue of The CRISPR Journal.

Not only that, but the paper got the cover! Kudos to Cheryl Brandenburg for the beautiful image of knockin neurons and astrocytes using Cas9-RC in the developing mouse brain. Congrats to the whole team for concluding this large piece of Synth Bio meets Dev Neurosci!

We would be delighted to have you try out Cas9-RC for your own knockin needs. Plasmids will become available on Addgene within the next few days!

Cas9-RC Knockin on the cover of The CRISPR Journal
Posted on

PouLab at SfN 2022

Follow our science at the 4 PouLab posters at SfN 2022 in San Diego!

Cheryl Brandenburg on Monday morning (Y5):
“Light sheet mapping of parvalbumin subtypes of Purkinje cells using in vivo CRISPR strategies“

Colin Robertson on Monday afternoon (YY36):
“Neural somatic genome editing in the brain for personalized patient models“

Garrett Bunce and Ro Whitten on Wednesday morning (B31):
“The novel gene Ganon-1 produces a scaffolding RNA for growth signaling in developing axon projections“

Andrea Romanowski on Wednesday morning (C45):
“Mosaic Cas9 fusions to investigate cortical wiring by IgLON schizophrenia risk-genes in the rodent brain”


See you all at #SFN2022

Posted on

Phosphorylation of Neuroligin-3

Our work on how the synaptic adhesion molecule Neuroligin-3 is targeted to either excitatory or inhibitory synapses based on phosphorylation is now available on the bioRxiv! Congrats to Bekir Altas, Liam Tuffy, Annarita Patrizi and the rest of the team in this international collaboration between the University of Maryland School of Medicine, the Max Planck Institute for Multidisciplinary Sciences, and the University of Turin.

Phosphorylation Determines Whether Neuroligin-3 is at Excitatory or Inhibitory Synapses in Different Regions of the Brain

Posted on

All in a day’s work…

Garrett hosts NOVA’s Halal on the Lawn, then gives a talk on the lncRNA he discovered; Andrea does supply runs, then gives a talk on multiplexing schizophrenia risk genes with CRISPR; Elise handles donation logistics, and attends both talks! And at the end of a good day’s work, the lab celebrates Alex’s birthday.

Posted on

Never heard of “mTOR outposts”? Now you have!

Read all about our postulate of the curious little things called “mTOR outposts” in this Hypothesis & Theory paper just out in Frontiers in Cellular Neuroscience!

Neuronal mTOR Outposts: Implications for Translation, Signaling, and Plasticity

Happy day for Bek, Andrea, Garrett, and Alex. Appreciations to Helen Bateup and Akira Yoshii for very constructive reviewing; to Gerardo Morfini for editing the Kinase/phosphatase signaling and axonal function in health and disease topic; and to all in the acknowledgements for the fascinating discussions around the concepts in the mTOR outpost model. Be part of those discussions, send us your thoughts!

Posted on

PouLab posters get prizes at the 2022 PiN Retreat!

Two-out-of-two for the lab’s posters at this year’s Program in Neuroscience retreat! Colin Robertson got the “Most innovative experimental design” prize for his poster on “In Vivo Prime Editor Introduces Patient Epilepsy Mutation in the Rodent Brain to Recapitulate Seizures” and Andrea Romanowski accepted a crown and scepter for the “Rule a kingdom” prize for her poster on “Multiplexed manipulation of gene dosage of schizophrenia risk genes using Cas9 fusions changes layer position of cortical neurons”. Congrats PouLab grad students!!!

Andrea, Ashley (McCarthy Lab), Garrett, and Colin accepting their prizes at the 2022 PiN retreat.
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