Lightnews — Scholar-powered news

Heather Mefford, MD, PhD @hcmefford.bsky.social · 21d

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. 🧬 🧠 🧬

1 2 9

Reposted by Heather Mefford, MD, PhD

Christel Depienne @christeldepienne.bsky.social · Sep 5

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...

www.medrxiv.org

1 16 21

Reposted by Heather Mefford, MD, PhD

Eric Topol @erictopol.bsky.social · Aug 15

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.

www.nature.com

1 16 70

Heather Mefford, MD, PhD @hcmefford.bsky.social · Aug 12

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 · Jun 24

🚨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

3 4

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jul 18

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...

2 2

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jun 13

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

4 6

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jun 11

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

2

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jun 6

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 · Jun 3

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

A group of AES attendees by the 5' tall AES letters

A person presenting their abstract to another AES attendee

1 2

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jun 6

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 · May 27

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.

www.ashg.org

5 2

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jun 5

Congrats to both @mrvollger.bsky.social and to UofU!

2

Heather Mefford, MD, PhD @hcmefford.bsky.social · May 27

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! 🌟

ruhrsynapse.bsky.social @ruhrsynapse.bsky.social · May 26

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

4 9

Heather Mefford, MD, PhD @hcmefford.bsky.social · May 27

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.

www.ashg.org

6 2

Heather Mefford, MD, PhD @hcmefford.bsky.social · May 2

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 · Apr 30

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

3

Heather Mefford, MD, PhD @hcmefford.bsky.social · Apr 29

Agree - amazing talk! Thanks for visiting and sharing your beautiful work @melikel.bsky.social!

2

Heather Mefford, MD, PhD @hcmefford.bsky.social · Apr 29

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

1 1

Heather Mefford, MD, PhD @hcmefford.bsky.social · Apr 5

So great to have you! Thanks again for coming. What a great #womeninstem epilepsy session! 🧬🧠🤩

3

Heather Mefford, MD, PhD @hcmefford.bsky.social · Apr 1

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.

www.ashg.org

3 3

Reposted by Heather Mefford, MD, PhD

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · Mar 24

#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

3 9

Reposted by Heather Mefford, MD, PhD

Annika Barber @annikabarber.bsky.social · Feb 24

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

44 290 370

Heather Mefford, MD, PhD @hcmefford.bsky.social · Feb 20

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....

2 9

Reposted by Heather Mefford, MD, PhD

The Jeremy Chase Crawford Lab @jcclab.bsky.social · Feb 2

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

4 5

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jan 21

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

2

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jan 15

Amazing!! Congrats!

1

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jan 10

Still snowing…❄️

2

Heather Mefford, MD, PhD @hcmefford.bsky.social · Jan 10

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

2 8