In vivo prime editing rescues alternating hemiplegia of childhood in mice Prime editing and base editing in mouse models and human cells effectively correct mutations in a gene that causes a childhood neurodevelopmental disorder called alternating hemiplegia of childhood. I...

One-shot prime genome editing ("CRISPR 3.0") of the brain in vivo corrected AHC, a rare genetic disorder, in the mouse model. Another big step forward in the genome editing field.
www.cell.com/cell/fulltex...

Honored to be hosting Rylie Pancoast as an AES Bridge Summer Intern 🧠🧪 @nu-bsa.bsky.social @amepilepsysoc.bsky.social

Rare Disease Day 2025: it’s hard to celebrate this with the NIH budget cuts, threats to Medicaid funding and lawsuit to end Section 504 Disability rights - all of which will severely impact individuals with rare diseases like my daughter Margot. We wear our stripes, we advocate and we fight!

Colorful hands raising up to banner for Rare Disease Day February 28

Individually rare, collectively strong #rarediseaseday

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Grateful to @scn2a.bsky.social and MDBR riders, volunteers and donors for the opportunity to pursue an exciting pilot study on #SCN2A 🚴‍♀️🧪🧬 #RareDisease

Preclinical Evidence for a Drug–Drug Interaction Between Cannabinol and Melatonin The worldwide legalization of medicinal cannabis has led to an increased use of products made by commercial operators. These products often contain minor cannabinoids such as cannabinol (CBN) which a...

Another collab with Johnathon Arnold’s group at U Sydney - Preclinical Evidence for a Drug–Drug Interaction Between Cannabinol and Melatonin. Combination #melatonin/#cannabinoid sleep-aid products are in the market. This may explain why they work, but also suggests caution may be warranted. 🧪😴 💊

A high seizure burden increases brain concentrations of specialized pro-resolving mediators in the Scn1a+/- mouse model of Dravet syndrome Dravet syndrome is a severe, intractable epilepsy in which 80 % of patients have a de novo mutation in the gene SCN1A. We recently reported that a hig…

Collab with Johnathan Arnold’s group at U Sydney - High seizure burden increases brain concentrations of specialized pro-resolving mediators in #Scn1a #Dravet mouse model 🧠🧪🧬

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MGI website has a nomenclature guide @jacksonlab.bsky.social 🐭

a man in a white shirt is sitting in a car drinking coffee Alt: a man in a white shirt is sitting in a car drinking coffee

Inauspicious start to the post-holiday Monday 😬

Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes Pathogenic variants in ATP1A3 encoding the neuronal Na/K-ATPase cause a spectrum of neurodevelopmental disorders including alternating hemiplegia of c…

Thankful to peer reviewers who constructively reviewed and improved our study- 🧠🧬🐁 #ATP1A3 #AHC
Novel mouse model of alternating hemiplegia of childhood

Every ”failed” experiment is a learning opportunity

JUST PUBLISHED! Cambridge "SCN2A-Related Disorders" Written and edited by leading experts, this comprehensive review explores the clinical spectrum, genetics, and therapeutic advances surrounding SCN2A-related conditions. Open access made possible by FamilieSCN2A. www.scn2a.org/pdf/scn2arel...

A flyer announcin a master's degree program at the university of utah . There is a picture of a sunset to the west of the university of utah

The Department of Pharmacology & Toxicology at the University of Utah is launching a one-year Master's Degree Program in the Fall of 2025. Applications are now open and due Dec 15!

Looks interesting. Is there funding available or is it tuition-based?

My group's work dissecting the contribution of common variants to rare neurodevelopmental conditions is now out at nature.com/articles/s41..., led by co-first authors Qinqin Huang (not yet on blue sky) and @emiliewigdor.bsky.social . See below for Emilie's tweetorial.

Axon Initial Segment Structure and Function in Health and Disease | Physiological Reviews At the simplest level, neurons are structured to integrate synaptic input and perform computational transforms on that input, converting it into an action potential (AP) code. This process-converting synaptic input into AP output-typically occurs in a specialized region of axon termed the axon initial segment (AIS). The AIS, as its name implies, is often contained to the first section of axon abutted to the soma and is home to a dizzying array of ion channels, attendant scaffolding proteins, intracellular organelles, extracellular proteins, and, in some cases, synapses. The AIS serves multiple roles as the final arbiter for determining if inputs are sufficient to evoke APs, as a gatekeeper that physically separates the somatodendritic domain from the axon proper, and as a regulator of overall neuronal excitability, dynamically tuning its size to best suit the needs of parent neurons. These complex roles have received considerable attention from experimentalists and theoreticians alike. Here, we review recent advances in our understanding of the AIS and its role in neuronal integration and polarity in health and disease.

@pjenkinslab.bsky.social and I wrote a review on the axon initial segment. We tried our best to discuss the state of the field and provide our perspective (and resolution for) some current sticking points. Hope it's useful!

doi.org/10.1152/phys...

I’m excited to join other national thought leaders as faculty on an ECHO dedicated to #rareepilepsies. Rare Epilepsy ECHO is launching January 22nd. Join me and register today: bit.ly/RareEpilepsyEC… #EpilepsyFoundation #RareEpilepsyNetwork #EpilepsiesECHO

I still feel like microPublications aren’t being used enough.

Designated bicycle parking for Nobel Laureate Sir Fraser Stoddart at Northwestern University

Indeed

Lead Researcher / Scientist - Mefford Lab in Memphis, Tennessee | St. Jude Careers St. Jude Careers is hiring a Lead Researcher / Scientist - Mefford Lab in Memphis, Tennessee. Review all of the job details and apply today!

We're looking for a talented scientist 👩‍🔬👨‍🔬to join our group @stjude.bsky.social! Help us develop/characterize #stemcell/#organoid models of #raredisease #epilepsy disorders. 🧠🧬🧠🧬 Details below - join us!

talent.stjude.org/careers/jobs...

Illustration of seizure first aid steps 1) stay with the person until they are awake and alert - time the seizure & stay calm 2) keep the person safe by moving away from harm 3) turn the person on their side Call 911 if -Seizure lasts longer than 5 minutes -Person does not return to their usual state -Person is injured, pregnant, or sick -Repeated seizures -First time seizure -Difficulty breathing -Seizure occurs in water DO NOT ✗ Do NOT restrain. ✗ Do NOT put any objects in their mouth.

Seizure first aid is easy if you know what to do #epilepsyawareness #epilepsy

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level Purpose: Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. While all VUS hold uncertainty,…

Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing.

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Sage Journals: Discover world-class research Subscription and open access journals from Sage, the world's leading independent academic publisher.

Hot off the press. New article, "Charting the Course to a Cure for #SCN2A related disorders" was just published today in Therapeutic Advances in Rare Disease. journals.sagepub.com/doi/10.1177/.... #rareepilepsy #autism #patientadvocacy

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