Heather Mefford, MD, PhD
@hcmefford.bsky.social
Physician scientist @ St. Jude (neuro)genetics | genomics epilepsy | rare disease | precision medicine
HUGE congrats to Dr. Christy LaFlamme @cwlaflamme.bsky.social, who successfully defended her thesis on Friday! What an enjoyable 4.5 years it has been. I couldn't be more proud as a mentor, and can't wait for future collaborations! Keep an eye out for this future leader in human genomics! 🧬 💜 🧬
Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.
It’s time for #ASHG25 in Boston! Exited for a great week of 🧬 superb science, collaborative conversations, fun with friends, and some good seafood 🐟 !!
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...
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...
medrxiv.org
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...
Brain editing now ‘closer to reality’: the gene-altering tools tackling deadly disorders
Stunning results in mice herald gene-editing advances for neurological diseases.
nature.com
Apply to be the next EiC for @geneticssociety.bsky.social journal @hggadvances.bsky.social HGGA! Due August 25. #publishing #scicomm #genetics
American Society of Human Genetics (ASHG)@geneticssociety.bsky.social · last yr.🚨Applications are open! Through August 25, apply to lead and shape the future of @hggadvances.bsky.social as its next Editor-in-Chief!🧬Be a part of an open-access journal known for high standards of scientific rigor, validity, and reproducibility➡️ apply.ashg.org/a/page/hgga-... #ASHG
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...
Career Awards for Medical Scientists - Burroughs Wellcome Fund
bwfund.org
Burroughs Wellcome Fund@bwfund.bsky.social · last yr.Application now open: Career Awards for Medical Scientists (CAMS) is a highly competitive program that provides $700,000 awards over five years for physician-scientists, who are committed to an academic career. buff.ly/VdljzxQ #bwfcams
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!
American Epilepsy Society@amepilepsysoc.bsky.social · last yr.AES is the ideal venue for #epilepsy scientists to present research results to a global audience. Submit your abstract to be considered for presentation at #AES2025 in Atlanta this Dec! Abstract submission is open until 6/9, 12:00 PM PT. buff.ly/C4syTQT #neurotwitter
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!
Heather Mefford, MD, PhD@hcmefford.bsky.social · last yr.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...
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! 🌟
R-Synapse@ruhrsynapse.bsky.social · last yr.Repeat expansion detected by @cwlaflamme.bsky.social through methylation, long-read and population data. (@hcmefford.bsky.social lab research, gene name hidden ->unpublished study) #eshg2025 @eshg.bsky.social #epilepsy #raredisease
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...
Abstracts
Abstract submission for ASHG 2025. We encourage you to submit your latest research on human genetics and genomics for programming at the ASHG 2025 Annual Meeting.
ashg.org
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! 🧬
American Society of Human Genetics (ASHG)@geneticssociety.bsky.social · last yr.Today, a group of ASHG members visited key congressional offices in Washington, D.C. to discuss the critical importance of sustained and predictable NIH funding, including how universities bolster local and state economies and the many ways genetics research saves lives. #ASHG
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
The American Society of Human Genetics - ASHG Awards
apply.ashg.org
American Society of Human Genetics (ASHG)@geneticssociety.bsky.social · last yr.Know someone who deserves to be recognized w/ ASHG's awards? Tag them below & tell us why they inspire you! Then, make it official by submitting their name for one of our six professional awards. 🏆The deadline is May 9–submit your nominations today: www.ashg.org/membership/a... #HumanGenetics #ASHG
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...
Becoming a Volunteer Leader
Members in good standing are encouraged to participate in the life of the Society by nominating candidates and voting in ASHG’s annual elections.
ashg.org
#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...
2025 Study section tracking
docs.google.com
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....
Risdiplam for Prenatal Therapy of Spinal Muscular Atrophy | NEJM
The alternate splicing small molecule risdiplam, administered to a fetus with spinal muscular atrophy, had an apparent ameliorating effect on the disorder through 30 months.
nejm.org
St. Jude Research@stjuderesearch.bsky.social · last yr.Scientists have successfully led the first in utero treatment of spinal muscular atrophy (SMA) with risdiplam. This groundbreaking trial shows promise for prenatal intervention in SMA. Learn more: ow.ly/ywFE50V39Hs
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...
St. Jude Is Hiring | Join Our Mission | St. Jude Careers
Explore job opportunities at St. Jude Children’s Research Hospital. Career opportunities exist in the areas of science, clinical care, operations, and more!
talent.stjude.org
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!
Christy LaFlamme (she/her)@cwlaflamme.bsky.social · 2y agoExcited to announce that my F99/K00 fellowship entitled, “A multi-omics approach to understanding pediatric epilepsies,” was officially funded today! And a huge thank you to @hcmefford.bsky.social for being the greatest mentor ever and always supporting me in these endeavors 🧬🧠 Cheers!
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
Heather Mefford, MD, PhD@hcmefford.bsky.social · 2y agoWe'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...
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...
Lead Researcher / Scientist - Mefford Lab in Memphis, Tennessee | St. Jude Careers
St. Jude Careers is hiring a Lead Researcher / Scientist - Mefford Lab in Memphis, Tennessee. Review all of the job details and apply today!
talent.stjude.org
