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/10.100…

🚨 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-counse…… #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: gregorconsortium.org/events/gregor-…

GWAS for Nobel prize laureates.

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

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 Stephanie prince CHASERR lncRNA Dad Dr. Heather Mefford @hcmefford.bsky.social Emily Bonkowski @Csaninocencio Gemma Carvill, PhD Chris McGraw, MD, PhD journals.sagepub.com/doi/10.1177/26…

Congrats to Coalition to Cure CHD2 who led this effort and to all authors who contributed! 🧠 🧬

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.myworkdayjobs.com/External/job/S…

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

And congrats to Dr. Heather Mefford @hcmefford.bsky.social on this year's American Epilepsy Society Basic Science Research Award! ✨🧠🧬 aesnet.org/about/aes-pres…

⚡️Epilepsy Awareness Month⚡️Thank you Le Bonheur Neuroscience Institute Le Bonheur Children's for featuring my son #beckthebrave ‘s journey with #intractableepilepsy and #epilepsysurgery SemmesMurpheyClinic lebonheur.org/publications/b…

Reminder for #ASHGtrainee #ASHG24 attendees looking for a postdoc, faculty position, or scientist job in genetics/neurogenetics/raredisease - visit St. Jude Research booth to learn about opportunities!

Love our collaborative clinic Le Bonheur Children's Le Bonheur Neuroscience Institute with Emily Bonkowski @nitchouras St. Jude St. Jude Research to diagnose and care for kids with known/suspected #genetic #epilepsy #RareDiseases! 🧬 🧠 ❤️ Read about it here 👇

We're looking for a talented scientist 👩‍🔬👨‍🔬to join our group St. Jude Research! Help us develop/characterize #stemcell/#organoid models of #raredisease #epilepsy disorders. 🧠🧬🧠🧬 Details below - join us! talent.stjude.org/careers/jobs/J…

New Paper! CHeRP faculty Hadley Stevens Smith 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

📣 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 Undiagnosed Diseases Network Foundation (UDNF)

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

Correspondence: Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy nej.md/3XbEg7J #Neurology

"Because aspects of human brain development are difficult to model in animals," Dr. Heather Mefford @hcmefford.bsky.social & team developed brain organoids from individuals with pathogenic UBA5. Their results "suggest potential treatment avenues for UBA5-associated encephalopathy." science.org/doi/10.1126/sc…

Nice work by Helen Chen, PhD, Christy W. LaFlamme, Emily Bonkowski, Dr. Heather Mefford @hcmefford.bsky.social, and colleagues from St. Jude Research. 📕 Science Translational Medicine