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Thrilled to be invited to 2025 AANS meeting in Boston to present on Focal Cortical Dysplasia (#FCD) and meningomyelocele Spina Bifida Association. Wow neurosurgeons have great tools!! I’m so jealous.

employment.ucsd.edu/clinical-study…. Pls share and apply!!

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.

Congrats Richard Finkle from St. Jude St. Jude Research St. Jude for #SMA breakthrough!! A Prenatal First! #TIME100Health

Super fun jamming. Note that’s Jonathan Sebat drum kit!!

Spoke with @sambakerKERA on KERA News / NPR about autism, genetics, and cutting through the noise of misinformation. Catch it today in the morning (Morning Edition) or afternoon (All Things Considered). Or listen here: keranews.org/people/sam-bak… UT Southwestern Medical Center UT Southwestern O'Donnell Brain Institute

Our special issue "Genomic Mosaicism in Human Development and Diseases" mdpi.com/3349964 #mdpigenes via Genes MDPI is now officially out! Thx for writing the editorial with me, Xincen!

Today I got to meet a hero of mine, Prof Eunjoon Kim (left) from KAISTPR and IBS_media(기초과학연구원). I was lucky to mentor his former PhD student 정창욱 (middle) who recently joined KAIST as a Prof. What a day!

Congrats to Michael Pacold and team for finding a treatment for #hpdl syndrome that we described. Likely the first mitochondrial encephalopathy with precise therapy. Looks like a cure!! nature.com/articles/s4158…

My Twitter experience improved once I found the ‘muted words’ feature. It used to be half of my feed was political, now it’s about 5%. Much less stressful! Try it! These are my muted words.

This is Kinsley, a 4-year-old with TUBB4A-related leukodystrophy. Her family flew in from Dallas to visit our lab yesterday and said she’s always talking about “the medicine in my back so I can walk and run... and then run some more.” A powerful reminder: Hope matters. Always.

Scoop from Jonathan Wosen, Ph.D. - Academic groups finalize counterproposal to NIH research overhead cuts statnews.com/2025/07/10/aca… via STAT

Hope you consider attending the CSHA Francis Crick Symposium in Neuroscience: Development, Plasticity and Function! Sept 8-12 2025 in Suzhou, China! Amazing location and speakers! With Yukiko Goda, Bo Li, Schaefer Lab, Song-Hai Shi csh-asia.org/?content/2534

On behalf of the CNV analysis workgroup of the PGC Consortium I'm pleased to share our latest paper "Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects" 🧵1/N medrxiv.org/content/10.110…

csh-asia.org/?content/2534

Congrats to McKnight Foundation 2025 Neurobiology Brain Disorder awardees: Hyejung Won Upasna Sharma Allan-Hermann Pool ZucheroLab Ethan Hughes. Honored to be on the selection committee. So many amazing applicants this year focused on brain disorders.

Ionis and n-Lorem Foundation Founder Stanley Crooke joins to discuss the fight against rare diseases with his new foundation, that treats patients for free, for life. cnb.cx/46k8OJZ

csh-asia.org/?content/2534

At the 1st #RENU syndrome family mtg with ⁦⁦n-Lorem Foundation⁩! Stan Crooke making the case for an RENU #ASO!

Excellent job n-Lorem Foundation! #ASO in development! #RENUsyndrome is waiting in anticipation of the next breakthrough! Sampled The Jackson Laboratory