Pediatric neurologist; Neurogeneticist; Neurobiologist; Fantasy Baseball player; Amateur chess enthusiast; Dad.
Philadelphia, PA, U.S.A.
Joined May 2013
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Loss of function variants in SCN1A cause Dravet syndrome, the most common/well known genetic epilepsy. Gain of function also causes a severe - albeit less common - neurodevelopmental disorder. We made the first mouse model of SCN1A GoF epilepsy: biorxiv.org/content/10.64898…
This study was led by superstar postdoctoral fellow Sophie Hill, Ph.D., and supported by @curedravet and the JumpStart Research Tools Matching Grant Program from @ODC_UPenn. Thanks as well to the SCN1A Gain of Function Foundation.
Ethan Goldberg retweeted
This work was a wonderful three-institution collaboration among @broadinstitute, @jacksonlab, and @ChildrensPhila co-led by @Andrew_TNelson, Sophie Hill, and Matthew Simon, with key contributions from Jérôme Clatot, @HoltSakai, Jun Xie, @AlexanderASousa, @meirui_an, Guangping Gao. This project was co-directed by Cat Lutz and Ethan Goldberg (@Go3than) . Congratulations to the team!
12/13
science.org/doi/10.1126/scit…
We have 2 Research Tech positions to support research related to mechanisms of neurodevelopmental disorders: careers.chop.edu/us/en/job/1… Please share the link. This would be great for a few years prior to applying to MD, PhD, or MD/PhD programs, or transitioning to industry.
Use-dependent regulation of the axonal action potential in parvalbumin-expressing interneurons biorxiv.org/content/10.64898…
New study led by postdoc Sophie Hill in collaboration @GordFishell @YatingWang1 et al: Developmental dysregulation of chandelier cell excitability in a mouse model of Dravet Syndrome biorxiv.org/content/10.64898…
Job Alert! Administrative Manager for new Center for Brain Research in Development, Genetics, and Engineering (BRIDGE Center) at the Children's Hospital of Philadelphia to provide admin leadership and support Center operations. Apply here: tinyurl.com/4s5j747p
Job Alert! Technical Director to lead the Behavioral Evaluation of Advanced Model Systems (BEAMS) Hub of the BRIDGE Center research.chop.edu/bridge at Children's Hosp of Philadelphia. Great for a senior postdoc or research associate w/ expertise in behavior tinyurl.com/ywbhckj9
Ethan Goldberg retweeted
Please consider applying for the 2025 Gordon Conference on Inhibition and the preceding Gordon Research Seminar on Inhibitory Cascades in the CNS. grc.org/inhibition-in-the-cn……Great lineup
Rare variants in epilepsy- and autism-linked gene SCN2A are associated with malformation of cortical development, supporting role of NaV1.2 in early brain development: doi.org/10.1111/epi.18234
Fun collaboration w/ @nupharm1 @NicolaSpecchio_ @r_guerrini Supported by @NIH_NINDS
New collaboration with @davidrliu to pursue base editing in a Dravet syndrome model.
Thanks to @curedravet for your leadership and vision and continued support of our work to improve the lives of patients with Dravet Syndrome.
einpresswire.com/article/769…
Rising star @ZPRosenthal PGY-3 Resident @PennPsych uses a novel mouse model of electroconvulsive therapy (ECT) and DCS/FD-DOS in humans to show that: ECT generates a hidden wave - CSD - after seizure biorxiv.org/content/10.1101/…
From postdoc Sophie Hill in a fun collaboration w/ EAP expert @TheyelLab supported by @curedravet : Attenuated Ectopic Action Potential firing in PV interneurons in a mouse model of Dravet Syndrome biorxiv.org/content/10.1101/…
The function of EAPs remains under investigation...
Postdoc Eric Wengert (brain slice physiologist + educator extraordinaire) teams up with @PennNGG MDPhD student @sophie_liebs and three @Penn undergrads: Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy: biorxiv.org/content/10.1101/…
We are recruiting to two (2) Tenure-Track Assistant Professor positions in the new BRIDGE Center (Brain Research In Development, Genetics, & Engineering) at The Children's Hospital of Philadelphia/University of Pennsylvania.
Details here: apply.interfolio.com/148361
Ethan Goldberg retweeted
Excited for Neuroscience 2024: Mechanisms and Emerging Therapies for Brain Disorders of Childhood. All @CHOPResearch and Penn faculty, staff and trainees are welcome. Join us to celebrate groundbreaking research and network with peers! Learn more: pdss.research.chop.edu/agend…
Superstar @PennNGG student @sophie_liebs throws the kitchen sink at Layer 1 Ndnf cells to show unique preservation of Ndnf interneuron excitability among the major neocortical GABAergic interneuron subtypes in a mouse model of Dravet syndrome. jneurosci.org/content/early/…
From postdoc Jade Feng: Kv3 modulator targets cell dysfunction in vitro + motor impairment/seizure susceptibility in vivo in mouse model of Progressive Myoclonus Epilepsy Type 7 (EPM7) doi.org/10.1016/j.xcrm.2023.… This preclinical data supported ClinicalTrials.gov ID NCT05873062
Another fun collaboration w/ @ChrisCurrin & @TPVogels plus @DelemotteLab and Manuel Covarrubias:
Jerome Clatot et al. A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction | PNAS pnas.org/doi/10.1073/pnas.23…
Our new paper studying SCN3A Epilepsy in an IPSC system by postdoc Guojie Qu, @PennNGG superstar Julie Merchant, and sodium channel maestro Jerome Clatot is in @Brain1848 at tinyurl.com/37xve8nr Great collaboration w/ the lab of Stewart Anderson @CHOP_Research
