After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

Excited to be at the CHD2 @curechd2.bsky.social Scientific and Family conference in Colorado w/ @esbonkowski.bsky.social @edithalmanzafuerte.bsky.social ! 🧬🧠⛰️

Repeat expansion detected by @cwlaflamme.bsky.social through methylation, long-read and population data. (@hcmefford.bsky.social lab research, gene name hidden ->unpublished study) #eshg2025 @eshg.bsky.social #epilepsy #raredisease

Excited to share my latest paper from @stjuderesearch.bsky.social , where we leverage patient derived cortical organoids to study UBA5 associated neurodevelopmental disorders.

Monday after Christmas vibes 🤪

First time participants for @stjude.bsky.social Memphis Marathon! Such a beautiful and fun event!

Perfect for pre- #GeneticCounseling, pre-med, public health, or PhD folks who want to spend a few years working/learning before going to grad, reach out with questions! Check out our lab here: www.stjude.org/research/lab... #GeneChat #Hiring #Research #Genetics #Epilepsy #RareDisease #GeneChat

Join our #MeffDreamTeam 🧬

The Mefford Lab is #hiring, come join us! @hcmefford.bsky.social We have TWO positions open: (1) *Lead Researcher/Scientist* who will have the opportunity to lead 2D and 3D #epilepsy #genetics modeling to inform better targeted treatments for kids. 🧠🧬💜 talent.stjude.org/careers/jobs...