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! 🧬 💜 🧬
My science 💜 is full as I reflect on a great week at #ASHG25! 5 posters from the lab, symposium on #epilepsy 🧠 #genetics 🧬, catching up with so many friends and colleagues. Already excited for #ASHG26 in Montreal - see you there!
Oops - WED poster correction
🧬🧠🧬
WEDNESDAY 10/15
4027W Genome seq in unsolved epilepsy
@sohamsg90.bsky.social
**8062W** a new repeat expansion locus as a potential cause for epilepsy @cwlaflamme.bsky.social (presented by Dianne Laboy)
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.
Also I think consensus is #ASHG25
Looking forward to seeing you!
More 🧬🧠🧬 from @stjuderesearch.bsky.social
THURSDAY 10/16
7025T NatHx of CHD2 and methylation sig for diagnosis @edithalmanzafuerte.bsky.social
4040T Multiomics analysis of Ring14 syndrome @esbonkowski.bsky.social
6011T Antisense oligonucleotide (ASO) therapy for GNAI1 epilepsy
Come visit our rare disease / epilepsy / genetics posters 🧬🧠🧬 from @stjuderesearch.bsky.social
WEDNESDAY 10/15
4027W Genome seq in unsolved epilepsy @sohamsg90.bsky.social
8026W a new repeat expansion locus as a potential cause for epilepsy
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...
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!
Congrats to both @mrvollger.bsky.social and to UofU!
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! 🧬
Agree - amazing talk! Thanks for visiting and sharing your beautiful work @melikel.bsky.social!
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
So great to have you! Thanks again for coming. What a great #womeninstem epilepsy session! 🧬🧠🤩
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...
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
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...