🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

The CHAMP1 Family & Scientific Engagement Conference will beheld October 24th-27th 2024. This will be at the Rosen Centre in Orlando, Florida 🇺🇸 This will be the largest gathering of CHAMP1 families and professionals to date. champ1foundation.org/conference

Lots to compete with on this site today, but now for some science! Thx & congrats to Emily Bonkowski and @esmatfa for leading this GeneReviews effort for #GNAI1 #genetic #epilepsy 🧠🧬 🧠🧬 We are actively studying GNAI1, so please send families our way! ncbi.nlm.nih.gov/books/NBK60549…

CURE Epilepsy is excited to announce our newest Catalyst and Rare Epilepsy Partnership grantees who are engaging in groundbreaking research for the epilepsy community. Learn about these researchers and their work! cureepilepsy.org/our-research/g…

Super pumped that this is out and so grateful to all the amazing folks who helped make it happen! Especially Dr. Heather Mefford @hcmefford.bsky.social 🙌🏼

Research from @HCMefford in Nature Communications has demonstrated the benefit of DNA methylation “episignatures” as fingerprints to track the cause of unsolved rare DEE cases to their relevant gene.  Learn more: stjude.org/media-resource…

One of my favorite things about working in the Dr. Heather Mefford @hcmefford.bsky.social lab is how, on a whim, everyone will come together to learn and help solve problems in #humangenetics 🧬 From the hashtags of Helen Chen, PhD —> #meffdreamteam

Happy Halloween from the Mefford Lab! 🎃👻🧹

Learn about Mefford lab science St. Jude Research during the week: THURS 1056T Natural hx of SLC6A1 disorder Soham Sengupta 2062T Multi-omic seq approaches in unsolved epilepsy Christy W. LaFlamme FRIDAY 8092F Rescuing KANSL1 haploinsufficiency Drew Murphy (undergrad!)

Looking for a #postdoc,#Faculty position or #Genetics #epilepsy #RareDisease #PrecisionMedicine #organoid #Bioinformatics job? Visit St. Jude Research #ASHG2024 exhibit at Booth 1106 - we are HIRING! Info about tackling peds neuro dz St. Jude Research: stjude.org/research/initi…

Great week at #ASHG24 ASHG! Proud of Mefford lab representation, inspired by the great science, and already excited for #ASHG25! 🧬 ❄️ 🧬 ❄️

We're looking for a talented scientist 👩‍🔬👨‍🔬to join our group St. Jude Research! Help us develop/characterize #stemcell/#organoid models of #raredisease #epilepsy disorders. 🧠🧬🧠🧬 Details below - join us! talent.stjude.org/careers/jobs/J…

Proportion expressed across transcripts (pext), using GTEx v10, is now available on #gnomAD v4!

And this is a huge win after my F31 application went from discussed to not discussed after resubmission. I want to highlight the “no’s” that lead up to this “yes” as well!