Edith Almanza Fuerte

Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...

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unpublished study)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!

Mefford Lab The Mefford laboratory dives into gene discovery to determine the genetic and biological basis of pediatric epilepsies.

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 🧬

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!

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...