iiinova — where your digital self keeps evolving

Reposted by Emily Bonkowski

AGBT @agbt.bsky.social · 10/09/2025

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

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Reposted by Emily Bonkowski

Heather Mefford, MD, PhD @hcmefford.bsky.social · 13/06/2025

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

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Reposted by Emily Bonkowski

Heather Mefford, MD, PhD @hcmefford.bsky.social · 27/05/2025

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! 🌟

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Reposted by Emily Bonkowski

St. Jude Children's Research Hospital @stjuderesearch.bsky.social · 07/05/2025

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.

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Emily Bonkowski @esbonkowski.bsky.social · 07/05/2025

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/... 🧬🧠💜

science.org

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.

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Reposted by Emily Bonkowski

Daniel MacArthur @dgmacarthur.bsky.social · 05/04/2025

Reckon we still have a while before ChatGPT replaces genetic counselors

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

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Reposted by Emily Bonkowski

Thanh Neville, MD, MSHS @thanh-neville.bsky.social · 25/01/2025

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.

reuters.com

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.

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Reposted by Emily Bonkowski

Stacey Ogden 🦔 @labogden.bsky.social · 23/01/2025

The impact of NIH funding on Tennessee.

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

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Reposted by Emily Bonkowski

Heather Mefford, MD, PhD @hcmefford.bsky.social · 07/12/2024

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

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Emily Bonkowski @esbonkowski.bsky.social · 04/12/2024

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...

talent.stjude.org

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!

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Emily Bonkowski @esbonkowski.bsky.social · 04/12/2024

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...

talent.stjude.org

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!

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Reposted by Emily Bonkowski

Hadley Stevens Smith @hadleyssmith.bsky.social · 18/11/2024

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

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Reposted by Emily Bonkowski

Heather Mefford, MD, PhD @hcmefford.bsky.social · 16/11/2024

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...

talent.stjude.org

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!

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