Heather Mefford, MD, PhD
@hcmefford.bsky.social
Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
(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! 𧬠π π§¬
November 9, 2025 at 5:47 PM
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! 𧬠π π§¬
Oops - WED poster correction
π§¬π§ π§¬
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)
π§¬π§ π§¬
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)
October 15, 2025 at 2:54 PM
Oops - WED poster correction
π§¬π§ π§¬
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)
π§¬π§ π§¬
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)
Reposted by Heather Mefford, MD, PhD
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.
October 14, 2025 at 8:25 PM
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.
Looking forward to seeing you!
October 13, 2025 at 7:12 PM
Looking forward to seeing you!
More π§¬π§ 𧬠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
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
October 13, 2025 at 3:35 PM
More π§¬π§ 𧬠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
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 π§¬π§ 𧬠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
WEDNESDAY 10/15
4027W Genome seq in unsolved epilepsy @sohamsg90.bsky.social
8026W a new repeat expansion locus as a potential cause for epilepsy
October 13, 2025 at 3:35 PM
Come visit our rare disease / epilepsy / genetics posters π§¬π§ 𧬠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
WEDNESDAY 10/15
4027W Genome seq in unsolved epilepsy @sohamsg90.bsky.social
8026W a new repeat expansion locus as a potential cause for epilepsy
Itβs time for #ASHG25 in Boston! Exited for a great week of 𧬠superb science, collaborative conversations, fun with friends, and some good seafood π !!
October 13, 2025 at 3:35 PM
Itβs time for #ASHG25 in Boston! Exited for a great week of 𧬠superb science, collaborative conversations, fun with friends, and some good seafood π !!
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. 𧬠π§ π§¬
September 17, 2025 at 10:10 PM
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. 𧬠π§ π§¬
Reposted by Heather Mefford, MD, PhD
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).
π www.medrxiv.org/content/10.1...
π 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
September 5, 2025 at 3:32 PM
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).
π www.medrxiv.org/content/10.1...
π www.medrxiv.org/content/10.1...
Reposted by Heather Mefford, MD, PhD
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...
www.nature.com/articles/d41...
Brain editing now βcloser to realityβ: the gene-altering tools tackling deadly disorders
Stunning results in mice herald gene-editing advances for neurological diseases.
www.nature.com
August 15, 2025 at 2:52 PM
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...
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
π¨Applications are open! Through August 25, apply to lead and shape the future of @hggadvances.bsky.social as its next Editor-in-Chief!π§¬Be a part of an open-access journal known for high standards of scientific rigor, validity, and reproducibilityβ‘οΈ apply.ashg.org/a/page/hgga-... #ASHG
August 12, 2025 at 7:46 PM
Apply to be the next EiC for @geneticssociety.bsky.social journal @hggadvances.bsky.social HGGA! Due August 25. #publishing #scicomm #genetics
Great opportunity π° for physician scientists transitioning to faculty positions πππ BWF CAMS applications due ποΈ OCT 7! Structured like a K99/R00 but specifically for MD/DO/DVM +/- PhD dedicated to a research career. www.bwfund.org/funding-oppo...
July 18, 2025 at 9:46 PM
Great opportunity π° for physician scientists transitioning to faculty positions πππ BWF CAMS applications due ποΈ 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 ! π§¬π§ β°οΈ
June 13, 2025 at 3:58 PM
Excited to be at the CHD2 @curechd2.bsky.social Scientific and Family conference in Colorado w/ @esbonkowski.bsky.social @edithalmanzafuerte.bsky.social ! π§¬π§ β°οΈ
Exam table of the day. Another reason to β€οΈ working in pediatrics π©Ί π π§¬
June 11, 2025 at 4:34 PM
Exam table of the day. Another reason to β€οΈ working in pediatrics π©Ί π π§¬
Another abstract deadline - get your #AES2025 abstracts in and meet us in Atlanta in December! Deadline β°π is MONDAY 12PM!
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
June 6, 2025 at 6:13 PM
Another abstract deadline - get your #AES2025 abstracts in and meet us in Atlanta in December! Deadline β°π is MONDAY 12PM!
We're spending today polishing #ASHG25 abstracts - are you? Friendly reminder that abstracts are due at 5PM Eastern on MONDAY! ποΈ β° Showcase your science, network with @geneticssociety.bsky.social 𧬠friends and colleagues 𧬠in Boston this fall. Can't wait to see you there!
It's that time of year! Submit your fabulous 𧬠science for #ASHG25 in Boston! ABSTRACTS DUE ποΈ 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...
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
June 6, 2025 at 5:55 PM
We're spending today polishing #ASHG25 abstracts - are you? Friendly reminder that abstracts are due at 5PM Eastern on MONDAY! ποΈ β° Showcase your science, network with @geneticssociety.bsky.social 𧬠friends and colleagues 𧬠in Boston this fall. Can't wait to see you there!
Congrats to both @mrvollger.bsky.social and to UofU!
June 5, 2025 at 9:58 PM
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! 𧬠π§ 𧬠#proudPI
P.S. she is graduating in Nov/Dec and looking for a 2026 postdoc position! π
P.S. she is graduating in Nov/Dec and looking for a 2026 postdoc position! π
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
#eshg2025 @eshg.bsky.social #epilepsy #raredisease
May 27, 2025 at 2:29 PM
Very proud to have @stjuderesearch.bsky.social grad student @cwlaflamme.bsky.social represent the Mefford lab and present her work at #eshg2025! 𧬠π§ 𧬠#proudPI
P.S. she is graduating in Nov/Dec and looking for a 2026 postdoc position! π
P.S. she is graduating in Nov/Dec and looking for a 2026 postdoc position! π
It's that time of year! Submit your fabulous 𧬠science for #ASHG25 in Boston! ABSTRACTS DUE ποΈ 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...
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
May 27, 2025 at 2:23 PM
It's that time of year! Submit your fabulous 𧬠science for #ASHG25 in Boston! ABSTRACTS DUE ποΈ 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...
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! π§¬
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
May 2, 2025 at 6:23 PM
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! π§¬
Agree - amazing talk! Thanks for visiting and sharing your beautiful work @melikel.bsky.social!
April 29, 2025 at 6:14 PM
Agree - amazing talk! Thanks for visiting and sharing your beautiful work @melikel.bsky.social!
It's that time of year - nominate your favorite geneticist 𧬠for one of ASHG's professional awards! π Several categories from Early Career to Lifetime Achievement, Mentorship, Advocacy, and Education. Deadline May 9 ποΈ @geneticssociety.bsky.social #ASHG apply.ashg.org/a/page/awards
April 29, 2025 at 6:12 PM
It's that time of year - nominate your favorite geneticist 𧬠for one of ASHG's professional awards! π Several categories from Early Career to Lifetime Achievement, Mentorship, Advocacy, and Education. Deadline May 9 ποΈ @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! π§¬π§ π€©
April 5, 2025 at 7:13 PM
So great to have you! Thanks again for coming. What a great #womeninstem epilepsy session! π§¬π§ π€©