At #AGBTPH25, @hcmefford.bsky.social of @stjuderesearch.bsky.social shared how gene replacement and antisense therapies are advancing treatments for rare pediatric epilepsies and neurological diseases — bringing new hope to patients and families. #PrecisionHealth #Genomics #RareDisease #Epilepsy

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

Very proud to have @stjuderesearch.bsky.social grad student @cwlaflamme.bsky.social represent the Mefford lab and present her work at #eshg2025! 🧬 🧠 🧬 #proudPI P.S. she is graduating in Nov/Dec and looking for a 2026 postdoc position! 🌟

@hcmefford.bsky.social, MD, PhD: “If we could coax the cells to make enough of the copy that doesn’t work as well, it might be a potential therapy.”

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.

Check out this amazing labor of love, led by Helen Chen, PhD @hc327.bsky.social: Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues | Science Translational Medicine www.science.org/doi/10.1126/... 🧬🧠💜

Reckon we still have a while before ChatGPT replaces genetic counselors

Postnatal SMA therapy w/genetic, small molecule therapies transforms the lives of patients. We present a case of *prenatal* tx of SMA with Dr. Finkel, colleagues @stjude.bsky.social @stjuderesearch.bsky.social @esbonkowski.bsky.social @sohamsg90.bsky.social +others www.nejm.org/doi/full/10....

One of my friends has a grant from the #FDA to look at disparities in clinical trial research and just submitted a manuscript with the findings. She was told today by the collaborators from the #FDA to rescind it. #Censorhip has started, we are living in authoritarian government.

The impact of NIH funding on Tennessee.

Hey #AES2024 - we are hiring @stjuderesearch.bsky.social! Our lab is looking for a scientist to work on our stem cell/organoid/precision medicine models (below) as well as a junior researcher to help w/both clinical and lab work. #raredisease #epilepsy #genetics

The Mefford Lab is #hiring, come join us! (2) The *Researcher* role will work closely with me and @edithalmanzafuerte.bsky.social on more clinical- and patient-oriented projects and data while also working at the bench. talent.stjude.org/careers/jobs...

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...

Here’s a starter pack of some ELSI researchers! Will update over time — let me know if I’ve missed you! go.bsky.app/CUh9PWa

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