Emily Bonkowski

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! 🌟

Unique model of rare epileptic disease helps pinpoint potential treatment route See how a cortical organoid model for UBA5-associated encephalopathy reveal development faults including stunted GABAergic interneuron growth linked to seizures

@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.

Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues Patient-derived cortical organoids facilitate disease modeling and assessment of potential targeted therapies for UBA5-related disorder.

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/...

🧬🧠💜

ChatGPT chat interface. The prompt is “draw a pedigree illustrating second cousins” and the response is a nonsensical pedigree including sibling consanguinity between a pair of brothers

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....

US FDA drops web pages on improving clinical trial diversity The U.S. Food and Drug Administration has pulled draft guidance from its website requiring companies to test medicines and devices in diverse populations as part of a purge of diversity, equity and inclusion efforts at U.S. health agencies.

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.

Metrics for the impact of NIH funding on the state of Tennessee. $770 million in funding, ~9300 jobs, $1.99 billion in economic activity.

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

Creating Supportive Spaces in Science with Heather Mefford, MD, PhD Learn how Heather Mefford, MD, PhD, creates supportive spaces for scientists at St. Jude.

We're a productive, fun group that gets to do meaningful science in a place that values our work. Plus, we get to work for @hcmefford.bsky.social in an inclusive and supportive environment!

www.stjude.org/research/pro...

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

Researcher- Mefford Lab in Memphis, Tennessee | St. Jude Careers St. Jude Careers is hiring a Researcher- Mefford Lab in Memphis, Tennessee. Review all of the job details and apply today!

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...

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...

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

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!

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...