Emily Bonkowski

Neuro GC & Research Program Coord | Public Health Genetics PhD student @uwsph | interests in bioethics and pediatrics, science is real, views are mine | she/her

[Science Advancement and Outreach @SAOscience]

"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."

https://t.co/xKb0YqIQY4

[Science Advancement and Outreach @SAOscience]

Nice work by @helenc327, @cwlaflamme, @ebonkowski, @hcmefford, and colleagues from @StJudeResearch.

📕 @ScienceTM

[NEJM @NEJM]

Correspondence: Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy https://t.co/UlMeN5A5o0

#Neurology

[American Epilepsy Society @AmEpilepsySoc]

Congratulations to Dr. Heather C. Mefford, MD, PhD, recipient of the 2024 Basic Science Research Award!

[UDN @UDNconnect]

📣 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: https://t.co/WTNyCnmlsR

@UDNForg

[CHeRP @CHeRP_DPM]

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: https://t.co/mWysuLu77n

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

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!

https://t.co/hInAwOaaIs

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

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 👇

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

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!

[Melinda Hughie Blalock @Mmhblalock]

⚡️Epilepsy Awareness Month⚡️Thank you @LeBNeuroscience @LeBonheurChild for featuring my son #beckthebrave ‘s journey with #intractableepilepsy and #epilepsysurgery @SemmesMurphey https://t.co/4q7hwElfC2

[Emily Bonkowski @ebonkowski]

And congrats to @hcmefford on this year's @AmEpilepsySoc Basic Science Research Award! ✨🧠🧬

https://t.co/89au6CnKWH

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

Happy Halloween from the Mefford Lab! 🎃👻🧹

[NEJM @NEJM]

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: https://t.co/CGJBEJsLWz

[Kimberly Aldinger, PhD @kaaldinger]

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?

https://t.co/VCjFDMG0wc

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

Congrats to @curechd2 who led this effort and to all authors who contributed! 🧠 🧬

[Coalition to Cure CHD2 @curechd2]

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 https://t.co/3BUDvwLMR1

[Dr. Shoumita Dasgupta @prof_dasgupta]

Here we are again. More artificial intelligences than women this time.

[Rainer Melzer @UCDflowerpower]

GWAS for Nobel prize laureates.

[Good Genes Genetic Counseling Services @GoodGenesGC]

🚨 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! https://t.co/uR0jIZTnBj… #GeneticCounseling #Genechat #RemoteLearning

[GREGoR Consortium @GREGoR_research]

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: https://t.co/AUB90WdnuK

[Hadley Stevens Smith @hadleyssmith]

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. https://t.co/5IVnTACf6N