Neuro GC & Research Program Coord | Public Health Genetics PhD student @uwsph | interests in bioethics and pediatrics, science is real, views are mine | she/her
Joined July 2009
- Tweets 925
- Following 1,040
- Followers 453
- Likes 3,263
Photos and videos
Emily Bonkowski retweeted
11 Jul 2025
"Because aspects of human brain development are difficult to model in animals," @hcmefford & team developed brain organoids from individuals with pathogenic UBA5. Their results "suggest potential treatment avenues for UBA5-associated encephalopathy."
science.org/doi/10.1126/scit…
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Emily Bonkowski retweeted
11 Jul 2025
Nice work by @helenc327, @cwlaflamme, @ebonkowski, @hcmefford, and colleagues from @StJudeResearch.
📕 @ScienceTM
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Correspondence: Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy nej.md/3XbEg7J
#Neurology
ALT Table 1. Pharmacokinetic and Pharmacodynamic Studies in the Mother and Infant.
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Emily Bonkowski retweeted
9 Dec 2024
Congratulations to Dr. Heather C. Mefford, MD, PhD, recipient of the 2024 Basic Science Research Award!
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Emily Bonkowski retweeted
26 Nov 2024
📣 HEALTH CARE PROFESSIONALS: Register for FREE Rare Epilepsies Focused ECHO in 2025 led by National Experts
*ATTENTION neurologists, RNs, genetic counselors, PCPs, ER doctors and other HCPs*
Learn more and register at: lnkd.in/g32s62vz
@UDNForg
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Emily Bonkowski retweeted
19 Nov 2024
New Paper! @CHeRP_DPM faculty @hadleyssmith and peers' paper Modern Family: An #Ethical #Justification for #System-Led Contact of #Relatives Eligible for #Cascade #Screening in the United States is featured in Public Health #Genomics!
Read More Here: buff.ly/3ADWCq5
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Emily Bonkowski retweeted
We're looking for a talented scientist 👩🔬👨🔬to join our group @StJudeResearch! Help us develop/characterize #stemcell/#organoid models of #raredisease #epilepsy disorders. 🧠🧬🧠🧬 Details below - join us!
talent.stjude.org/careers/jo…
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Emily Bonkowski retweeted
Love our collaborative clinic @LeBonheurChild @LeBNeuroscience with @ebonkowski @nitchouras @StJude @StJudeResearch to diagnose and care for kids with known/suspected #genetic #epilepsy #RareDiseases! 🧬 🧠 ❤️ Read about it here 👇
8 Nov 2024
Le Bonheur’s Neuroscience Institute provides the most up-to-date care, resources, research and treatment for children with a suspected or known genetic epilepsy disorder through the Neurogenetics Clinic. ow.ly/mhu850TYgTt
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Emily Bonkowski retweeted
Reminder for #ASHGtrainee #ASHG24 attendees looking for a postdoc, faculty position, or scientist job in genetics/neurogenetics/raredisease - visit @StJudeResearch booth to learn about opportunities!
Looking for a #postdoc,#Faculty position or #Genetics #epilepsy #RareDisease #PrecisionMedicine #organoid #Bioinformatics job? Visit @StJudeResearch #ASHG2024 exhibit at Booth 1106 - we are HIRING!
Info about tackling peds neuro dz @StJudeResearch: stjude.org/research/initiati…
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Emily Bonkowski retweeted
2 Nov 2024
⚡️Epilepsy Awareness Month⚡️Thank you @LeBNeuroscience @LeBonheurChild for featuring my son #beckthebrave ‘s journey with #intractableepilepsy and #epilepsysurgery @SemmesMurphey lebonheur.org/publications/b…
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31 Oct 2024
And congrats to @hcmefford on this year's @AmEpilepsySoc Basic Science Research Award! ✨🧠🧬
aesnet.org/about/aes-press-r…
Happy Halloween from the Mefford Lab! 🎃👻🧹
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Deletions in a gene (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) that encodes a long noncoding RNA cause severe developmental delay and an increase in expression of a neighboring gene, 𝘊𝘏𝘋2. Read the Brief Report: nej.md/48gS1WY
ALT Brief Report: Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene Facial features and findings on MRI of the brain in a child with CHASERR haploinsufficiency.
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Emily Bonkowski retweeted
12 Oct 2024
We are hiring!
Do you have iPSC experience?
Want to study how rare genetic variants impact brain 🧠 development?
Looking 👀 for additional experience before med/grad school?
seattlechildrens.wd5.myworkd…
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Emily Bonkowski retweeted
Congrats to @curechd2 who led this effort and to all authors who contributed! 🧠 🧬
10 Oct 2024
Excited to see CCC's peer-reviewed paper, A Roadmap to Cure CHD2-Related Disorders, has been published in Therapeutic Advances in Rare Disease. Kudos team! #curechd2 @Stephkprince @chaserrdad @hcmefford @ebonkowski @Csaninocencio @CarvillLab @chrismcgraw82 journals.sagepub.com/doi/10.…
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Emily Bonkowski retweeted
10 Oct 2024
Excited to see CCC's peer-reviewed paper, A Roadmap to Cure CHD2-Related Disorders, has been published in Therapeutic Advances in Rare Disease. Kudos team! #curechd2 @Stephkprince @chaserrdad @hcmefford @ebonkowski @Csaninocencio @CarvillLab @chrismcgraw82 journals.sagepub.com/doi/10.…
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Emily Bonkowski retweeted
9 Oct 2024
Here we are again. More artificial intelligences than women this time.
Not for the first time, all Nobel Prizes in scientific disciplines this year have been awarded to men
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Emily Bonkowski retweeted
9 Oct 2024
GWAS for Nobel prize laureates.
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Emily Bonkowski retweeted
🚨 Enrollment is OPEN for The GC Immersive at Color! This FREE, REMOTE program is designed to boost your skills and get you ready for GC school! Mock sessions, pedigree training, and much more! Enroll now! color.com/genetic-counseling…… #GeneticCounseling #Genechat #RemoteLearning
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Emily Bonkowski retweeted
8 Oct 2024
Heading to #ASHG24? Add the @GREGoR_Research Ancillary Session to your schedule!
Date & Time: Friday November 8, 2024 at 11:45 am - 1:15 pm MT
Last year was standing room only, register to secure your spot here: gregorconsortium.org/events/…
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Emily Bonkowski retweeted
3 Oct 2024
Lack of health-related quality of life data for children with rare/genetic conditions poses challenges to understanding impacts of early detection. We highlight importance of collecting HRQoL data to inform (genomic) newborn screening decisions. link.springer.com/article/10…
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