KearneyLab
@kearneylab.bsky.social
Neuroscience | Genetics | Pharmacology | Epilepsy | Neurodevelopmental Disorders | Targeted therapeutics | Northwestern University, Chicago | Opinions are my own 🧪👩🔬🧠🧬💊
Link to our latest work on a novel mouse model of #SCN2A related disorder with a GoF variant 🧬🧠🐭
bioRxivpreprint@biorxivpreprint.bsky.social · 2mo agoElevated neuronal excitability and seizure susceptibility in a mouse model of SCN2A-related developmental and epileptic encephalopathy https://www.biorxiv.org/content/10.64898/2026.08.30.748006v1
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...
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...
cell.com
Honored to be hosting Rylie Pancoast as an AES Bridge Summer Intern 🧠🧪 @nu-bsa.bsky.social @amepilepsysoc.bsky.social
American Epilepsy Society@amepilepsysoc.bsky.social · last yr.Meet the 2025 BRIDGE Summer Interns! These outstanding students are spending the summer immersed in epilepsy research and clinical work. Learn more about the 2025 interns: 🔗 buff.ly/TIPUHOD #EpilepsyResearch #BRIDGEInterns #FutureLeaders #AES2025 #EpilepsyAwareness
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!
Grateful to @scn2a.bsky.social and MDBR riders, volunteers and donors for the opportunity to pursue an exciting pilot study on #SCN2A 🚴♀️🧪🧬 #RareDisease
FamilieSCN2A Foundation @scn2a.bsky.social · 2y ago📣 Please join us in congratulating Jennifer Kearney, PhD as this year’s MDBR awardee! Dr. Kearney created the first ever #SCN2a mouse model & also serves on the Foundation’s SAB. Thank you riders, volunteers and donors! Read more here: www.orphandiseasecenter.med.upenn.edu/awarded-gran...
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. 🧪😴 💊
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...
doi.org
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 🧠🧪🧬
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…
sciencedirect.com
Inauspicious start to the post-holiday Monday 😬
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
media.tenor.com
Thankful to peer reviewers who constructively reviewed and improved our study- 🧠🧬🐁 #ATP1A3 #AHC Novel mouse model of alternating hemiplegia of childhood
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…
sciencedirect.com
Every ”failed” experiment is a learning opportunity
Elisa Granato@prokaryota.bsky.social · 2y agoFailure is a cornerstone of scientific research, but it still feels bad. Here is a short article I wrote on how to mentally deal with "failed" experiments. Does a truly "failed" experiment actually exist?? @academic-chatter.bsky.social #academicsky #microsky elisagranato.com/phd-tips-dea...
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...
scn2a.org
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!
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.
Examining the role of common variants in rare neurodevelopmental conditions - Nature
Patients with neurodevelopmental conditions without a monogenic diagnosis have a higher polygenic burden than those with a monogenic diagnosis. Non-transmitted common all...
nature.com
Emilie Wigdor@emiliewigdor.bsky.social · 2y ago📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...
@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...
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.
doi.org
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.
microPublication - Get Your Data Out, Be Cited
micropublication.org
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...
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!
talent.stjude.org
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.
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,…
buff.ly
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
Sage Journals: Discover world-class research
Subscription and open access journals from Sage, the world's leading independent academic publisher.
journals.sagepub.com
Our article on genetic modifiers of #Dravet syndrome is published open access. We used #Scn1a mice to fine map two loci and nominate 7 strong candidate genes that influence #SUDEP risk 🧬🧠🐁 link.springer.com/10.1007/s003...
Fine mapping and candidate gene analysis of Dravet syndrome modifier loci on mouse chromosomes 7 and 8 - Mammalian Genome
Dravet syndrome is a developmental and epileptic encephalopathy (DEE) characterized by intractable seizures, comorbidities related to developmental, cognitive, and motor delays, and a high mortality b...
link.springer.com
Link to our latest work mapping genetic modifiers of #Dravet syndrome in #Scn1a KO mice. High priority candidates include Nav2, Ptpn5, Ldha, Dbx1, Prmt3, Slc6a5 and Psd3. 🧬🧠 www.biorxiv.org/content/10.1...
Alert! #Neuroskyence 🧪🧠📈. Our epilepsy drug development program has 2 opportunites! A great chance to learn about antiseizure drug development in a dynamic lab environment at the beautiful U of Utah. Please reskeet! employment.utah.edu/salt-lake-ci... employment.utah.edu/salt-lake-ci...
University of Utah Jobs - Lab Technician in Salt Lake City, Utah, United States ...
employment.utah.edu
Hey @jay.bsky.team and @rose.Bsky.team we’ve a campaign to bring over as many SciTwitter peeps as possible and have been crowdsourcing invite codes. It’s going nicely, but the list is longer than I have codes. If you guys are interested in growing the science community here, help a peep out w/more?
Thanks to @bwjones.bsky.social for distributing codes. Looking forward to rebuilding. 🧬👩🔬
