Emily Bonkowski
@esbonkowski.bsky.social
Research Genetic Counselor (& Public Health Genetics PhD student) Interests in neurogenetics, bioethics, and precision medicine for kids 🧬🧠💜 Science is real, views are mine (she/her)
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! 🌟
R-Synapse@ruhrsynapse.bsky.social · last yr.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unpublished study) #eshg2025 @eshg.bsky.social #epilepsy #raredisease
@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.”
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
ow.ly
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/... 🧬🧠💜
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.
science.org
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....
Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy | NEJM
The alternate splicing small molecule risdiplam, administered to a fetus with spinal muscular atrophy, had an apparent ameliorating effect on the disorder through 30 months.
nejm.org
St. Jude Research@stjuderesearch.bsky.social · last yr.Scientists have successfully led the first in utero treatment of spinal muscular atrophy (SMA) with risdiplam. This groundbreaking trial shows promise for prenatal intervention in SMA. Learn more: ow.ly/ywFE50V39Hs
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.
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.
reuters.com
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
Heather Mefford, MD, PhD@hcmefford.bsky.social · 2y agoWe'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...
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...
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!
talent.stjude.org
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
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...
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
