Edith Almanza Fuerte
LightNews LightNews
banner
edithalmanzafuerte.bsky.social
Edith Almanza Fuerte
@edithalmanzafuerte.bsky.social
63 followers 98 following 3 posts
Lab Manager for the Mefford Lab | Memphis, TN | 🇲🇽 | 🐻 |
Posts Replies Media Videos
Reposted by Edith Almanza Fuerte
girlscientist.bsky.social
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.
October 14, 2025 at 8:25 PM
Reposted by Edith Almanza Fuerte
christeldepienne.bsky.social
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...
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...
www.medrxiv.org
September 5, 2025 at 3:32 PM
Reposted by Edith Almanza Fuerte
hcmefford.bsky.social
Excited to be at the CHD2 @curechd2.bsky.social Scientific and Family conference in Colorado w/ @esbonkowski.bsky.social @edithalmanzafuerte.bsky.social ! 🧬🧠⛰️
June 13, 2025 at 3:58 PM
Reposted by Edith Almanza Fuerte
ruhrsynapse.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unpublished study)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
May 26, 2025 at 9:50 AM
Reposted by Edith Almanza Fuerte
hc327.bsky.social
Excited to share my latest paper from @stjuderesearch.bsky.social , where we leverage patient derived cortical organoids to study UBA5 associated neurodevelopmental disorders.
stjuderesearch.bsky.social St. Jude Research @stjuderesearch.bsky.social · May 7
Scientists developed a patient-derived organoid model for UBA5-associated encephalopathy, revealing stunted GABAergic interneuron growth as a cause of seizures. Boosting activity of the hypomorphic UBA5 gene shows promise as a potential therapy.
May 7, 2025 at 7:26 PM
edithalmanzafuerte.bsky.social
Monday after Christmas vibes 🤪
December 30, 2024 at 9:36 PM
edithalmanzafuerte.bsky.social
First time participants for @stjude.bsky.social Memphis Marathon! Such a beautiful and fun event!
December 7, 2024 at 7:25 PM
Reposted by Edith Almanza Fuerte
esbonkowski.bsky.social
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
Mefford Lab
The Mefford laboratory dives into gene discovery to determine the genetic and biological basis of pediatric epilepsies.
www.stjude.org
December 4, 2024 at 4:33 PM
edithalmanzafuerte.bsky.social
Join our #MeffDreamTeam 🧬
December 4, 2024 at 4:35 PM
Reposted by Edith Almanza Fuerte
esbonkowski.bsky.social
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...
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!
talent.stjude.org
December 4, 2024 at 4:18 PM