"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

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

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

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

📣 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

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

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

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 👇

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!

⚡️Epilepsy Awareness Month⚡️Thank you @LeBNeuroscience @LeBonheurChild for featuring my son #beckthebrave ‘s journey with #intractableepilepsy and #epilepsysurgery @SemmesMurphey

And congrats to @hcmefford on this year's @AmEpilepsySoc Basic Science Research Award! ✨🧠🧬 https://t.co/89au6CnKWH

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

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

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

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

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

GWAS for Nobel prize laureates.

🚨 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

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:

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.