Appreciating these 2 during Postdoc Appreciation Week @stjuderesearch.bsky.social! Esmat @esfa.bsky.social spearheading our GNAI1 studies and Dianne (new!) embarking on her #raredisease research journey with us. 🧬 🧠 🧬

After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

We've seen how human genome editing is working for disease- causing mutations in the blood, liver and eye. The brain was considered to be an exceptionally difficult target. That's changing @nature.com by @heidiledford.bsky.social www.nature.com/articles/d41...

Apply to be the next EiC for @geneticssociety.bsky.social journal @hggadvances.bsky.social HGGA! Due August 25. #publishing #scicomm #genetics

Great opportunity 💰 for physician scientists transitioning to faculty positions 👇👇👇 BWF CAMS applications due 🗓️ OCT 7! Structured like a K99/R00 but specifically for MD/DO/DVM +/- PhD dedicated to a research career. www.bwfund.org/funding-oppo...

Excited to be at the CHD2 @curechd2.bsky.social Scientific and Family conference in Colorado w/ @esbonkowski.bsky.social @edithalmanzafuerte.bsky.social ! 🧬🧠⛰️

Exam table of the day. Another reason to ❤️ working in pediatrics 🩺 🚎 🧬

Another abstract deadline - get your #AES2025 abstracts in and meet us in Atlanta in December! Deadline ⏰📆 is MONDAY 12PM!

We're spending today polishing #ASHG25 abstracts - are you? Friendly reminder that abstracts are due at 5PM Eastern on MONDAY! 🗓️ ⏰ Showcase your science, network with @geneticssociety.bsky.social 🧬 friends and colleagues 🧬 in Boston this fall. Can't wait to see you there!

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! 🌟

It's that time of year! Submit your fabulous 🧬 science for #ASHG25 in Boston! ABSTRACTS DUE 🗓️ JUNE 9! We'd love to see you there @geneticssociety.bsky.social Submit your science and remind your friends to do the same! www.ashg.org/meetings/202...

Spent a day on Capitol Hill this week w/fave @geneticssociety.bsky.social #ASHG leaders highlighting the importance of NIH funding for breakthroughs in medical research, training the next gen, local economies. Thx to TN @senatorhagerty.bsky.social and Rep Fleischmann staffers for meeting with us! 🧬

It's that time of year - nominate your favorite geneticist 🧬 for one of ASHG's professional awards! 🏆 Several categories from Early Career to Lifetime Achievement, Mentorship, Advocacy, and Education. Deadline May 9 🗓️ @geneticssociety.bsky.social #ASHG apply.ashg.org/a/page/awards

One week left to apply for @geneticssociety.bsky.social Committees or Board of Directors - an excellent way to be involved in YOUR 🧬 society. Engage, expand your network, and contribute to ASHG's mission. Apply here by April 7 - self nominations welcome. www.ashg.org/about/nomina...

#ASHG is delighted to announce the appointment of Kiran Musunuru MD, PhD, as the new Editor-in-Chief of @ajhgnews.bsky.social. Join us in welcoming him ahead of the start of his tenure on January 1, 2026: www.ashg.org/publications... #ASHG

Wondering if your study section cancelled? I update this sheet daily. As of today, 56/124 study sections that should have met since Jan 2, 2025 have "not met as scheduled." docs.google.com/spreadsheets...

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....

The JCC Lab is #hiring experienced bench scientists for work on human immunology and assay development! These are long term, stable positions not subject to the ebb and flow of federal funding. talent.stjude.org/careers/jobs...

Small world...after HS in Iowa, I studied ChemE on a Langsdorf scholarship @washu.bsky.social. FF>>one of my daughter's randomly assigned Yr1 #WashU roomies (&bestie) is an Iowan & Langsdorf scholar studying ChemE! Loved showing her #Memphis & @stjuderesearch.bsky.social this wkend. #AcademicTwins

Snow day ❄️ in Memphis! And it’s still coming down… ⛄️ ❄️ ⛄️ ❄️

Huge CONGRATS to @cwlaflamme.bsky.social on her F99/K00 from NHGRI! Well deserved, and it means I get to keep her around a bit longer - WIN WIN!

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

It’s @stjude.bsky.social marathon weekend! Always overlaps with @amepilepsysoc.bsky.social, so I brought the half marathon to #AES2024 in LA! Just logged 🏃‍♀️ 13.1 beachside miles 🏃‍♀️ in support of this weekend’s runners in Memphis, including my better half @cmef.bsky.social @cmefford.bsky.social!

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...