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New opinion piece on somatic genetics in epilepsy authors.elsevier.com/a/1b3vI,LqAZNU…

The Heinzen lab is hiring! Multiple postdoctoral fellowship positions open to study the genetic and molecular bases of epilepsy. unc.peopleadmin.com/postings/193125 unc.peopleadmin.com/postings/193129

Very pleased to announce the release of our medRxiv preprint of our work on somatic variants in malformations of cortical development that shines new light on the genetic landscape of epilepsy associated focal cortical dysplasia! medrxiv.org/content/10.110…

Where are all the #bioinformatics folks?? We're looking for someone to join our team! #epilepsy #genetics #genomics - lots of data to play with and discoveries to be made! careers-stjude.icims.com/jobs/8969/lead…

The Departments of Genetics and Psychiatry at the University of North Carolina at Chapel Hill is hiring at the Assistant Professor level. Apply here! unc.peopleadmin.com/postings/217557

Interested in neurogenetics and translational neuroscience? Come join our team! Multiple postdoc, technician, and staff scientist positions open. unc.peopleadmin.com/postings/223226 unc.peopleadmin.com/postings/193142 unc.peopleadmin.com/postings/193143

So proud of this story about our amazing Microscopy Core director, Michelle Itano endeavors.unc.edu/microscope-mag…

If you are looking for a postdoc in neurodevelopmental disorders, in my lab or others at UNC, please apply to this training grant! We support postdocs in both basic and clinical research. cidd.unc.edu/Education/defa…

In addition to great science and highlighting the work at PTNI St. Jude Research, we had some fun #WalkinginMemphis on Beale Street! Gemma Carvill, PhD Prof Ingrid Scheffer Ingo Helbig Amy Schneider Sophie Russ-Hall Epilepsy Genetics Program Erin Heinzen Jack Parent and more!

Had the most wonderful time at #AES2022 in Nashville presenting my work on #singlecellRNAseq

Great paper from the Epi25 collaborative on the rare variant associations of different types of epilepsy based on WES analysis of ~54k individuals. This paper is packed with insightful findings. I'll highlight a few 🧵 medrxiv.org/content/10.110…

Is mesial temporal lobe epilepsy (MTLE) attributable to genetic factors? It turns out, yes! Our work on somatic genetics of MTLE is out in JAMA Neurology today, arguing that somatic variants in the hippocampus may account for a subset of MTLE cases. A🧵… jamanetwork.com/journals/jaman…

Meet the worm! Through a partnership with InVivo Biosystems (invivobiosystems.com), we have the opportunity to fund a drug repurposing study in C. elegans (the worm)to identify and evaluate existing FDA approved medicines for potential effectiveness in treating Malan syndrome.

Check out our new paper reporting a meiotic origin of chromosome 1q copy number gains in epilepsy with a distinct clinical presentation including cytoplasmic hyaline astrocytic inclusions. All possible because of our fantastic collaborative group! rdcu.be/dphgS

It was a pleasure representing the lab and sharing our protocol for genotype informed single cell RNA seq of the mosaic tissue at #ASHG2023.

Happy to share our publication showcasing LUSTR, a new tool for calling germline and somatic short tandem repeat variants in whole genome sequence data. Excited to see how this tool will be used to learn more about the role of STRs in disease. rdcu.be/dw2ag

Happy to share our latest publication that shows loss of function SLC35A2 variants disrupt glycosylation, accelerate neurodevelopment, skew neuronal fate, and lead to hypoactive, asynchronous neuronal networks with altered synaptic function. academic.oup.com/brain/advance-…

DeepMind just dropped a 106-page paper unveiling AlphaGenome. This single model could completely redefine how we discover disease-causing mutations and drug targets. This is massive. 🧵