@hcmefford.bsky.social
Physician scientist @ St. Jude (neuro)genetics | genomics epilepsy | rare disease | precision medicine
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. 🧬 🧠 🧬
17.09.2025 22:10 — 👍 9 🔁 2 💬 1 📌 0
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
12.08.2025 19:46 — 👍 4 🔁 3 💬 0 📌 0Great 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...
18.07.2025 21:46 — 👍 2 🔁 2 💬 0 📌 0
Excited to be at the CHD2 @curechd2.bsky.social Scientific and Family conference in Colorado w/ @esbonkowski.bsky.social @edithalmanzafuerte.bsky.social ! 🧬🧠⛰️
13.06.2025 15:58 — 👍 6 🔁 4 💬 0 📌 0
Exam table of the day. Another reason to ❤️ working in pediatrics 🩺 🚎 🧬
11.06.2025 16:34 — 👍 2 🔁 0 💬 0 📌 0Another abstract deadline - get your #AES2025 abstracts in and meet us in Atlanta in December! Deadline ⏰📆 is MONDAY 12PM!
06.06.2025 18:13 — 👍 2 🔁 1 💬 0 📌 0We'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!
06.06.2025 17:55 — 👍 2 🔁 5 💬 0 📌 0Congrats to both @mrvollger.bsky.social and to UofU!
05.06.2025 21:58 — 👍 2 🔁 0 💬 0 📌 0Very 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! 🧬
02.05.2025 18:23 — 👍 3 🔁 0 💬 0 📌 0Agree - amazing talk! Thanks for visiting and sharing your beautiful work @melikel.bsky.social!
29.04.2025 18:14 — 👍 2 🔁 0 💬 0 📌 0It'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
29.04.2025 18:12 — 👍 1 🔁 1 💬 0 📌 0So great to have you! Thanks again for coming. What a great #womeninstem epilepsy session! 🧬🧠🤩
05.04.2025 19:13 — 👍 3 🔁 0 💬 0 📌 0
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...
01.04.2025 15:32 — 👍 3 🔁 3 💬 0 📌 1
Kiran Musunuru MD, PhD
#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
24.03.2025 14:10 — 👍 9 🔁 3 💬 0 📌 0
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...
24.02.2025 16:17 — 👍 367 🔁 292 💬 44 📌 22Postnatal 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....
20.02.2025 21:50 — 👍 9 🔁 2 💬 0 📌 0
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...
02.02.2025 16:58 — 👍 5 🔁 4 💬 0 📌 1
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
21.01.2025 16:17 — 👍 2 🔁 0 💬 0 📌 0Amazing!! Congrats!
15.01.2025 02:43 — 👍 0 🔁 0 💬 1 📌 0
Still snowing…❄️
10.01.2025 19:13 — 👍 2 🔁 0 💬 0 📌 0
Snow day ❄️ in Memphis!
And it’s still coming down…
⛄️ ❄️ ⛄️ ❄️
Congratulations, Joris!
08.01.2025 17:11 — 👍 1 🔁 0 💬 0 📌 0And that’s the movie, not the book…
22.12.2024 03:29 — 👍 1 🔁 0 💬 1 📌 0Huge 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!
18.12.2024 18:08 — 👍 11 🔁 0 💬 3 📌 0Congratulations, Elena! 🥂
13.12.2024 18:28 — 👍 1 🔁 0 💬 0 📌 0Fun to see you! Just wish we had more time!
10.12.2024 23:13 — 👍 1 🔁 0 💬 1 📌 0
