Joseph Gleeson

Thrilled to be invited to 2025 @AANSNeuro meeting to present on Focal Cortical Dysplasia (#FCD) and meningomyelocele @SpinaBifidaAssn. Wow neurosurgeons have great tools!! I’m so jealous.

Exclusive | Ousted Vaccine Chief Says RFK Jr.’s Team Sought Data to Justify Anti-Science Stance Dr. Peter Marks says the new health secretary’s team wants to show vaccines aren’t safe while promoting dangerous and unproven treatments.

At this point, this is unsurprising, but still absolutely appalling. “The top vaccine regulator ousted by Robert F. Kennedy Jr. said the health secretary’s team has sought nonexistent data to justify antivaccine narratives and pushed to water down regulation of unproven stem-cell treatments.”

Breakthrough study sheds new light on causes of spina bifida and potential treatments Scientists make a significant breakthrough in understanding the genetic causes of spina bifida, a serious birth defect affecting thousands of newborns each year.

Breakthrough study sheds new light on causes | EurekAlert! www.eurekalert.org/news-release...

Dreaded identical ‘red bar’ across 4 of the @NIH 27 institute websites may suggest slating for closure or consolidation.

Thanks Wildtype One!

Same red bar on the NHGRI website. But not on NINDS website. This likely means that these are the Institutes slated to be absorbed by other NIH Institutes. www.genome.gov

Breakthrough Study Sheds New Light on Causes of Spina Bifida and Potential Treatments | RCIGM New Research Published in Nature Offers Hope for Understanding and Preventing Common Birth Defect San Diego—April 1, 2025– Scientists at Rady Children’s

Check out the press release on our new paper on #meningomyelocele! radygenomics.org/2025/breakth...

Our results define a new model of mutations for a common disease, enriched in D-Mis as well as LGDs. We identified high-confidence MM risk genes and dozens of new candidate genes from network propagation.

Our results suggest DNMs make key contributions to MM risk, and highlight critical pathways required for neural tube closure in human embryogenesis.

LGDs and D-Mis mutations occurred in 22.1% of patients, 28% of which likely contribute disease risk. Mutations were modeled in cell culture and frog, confirming protein disruption and neural tube defects.

Sequencing 2541 individuals, we identified likely damaging mutations in 187 genes, almost none previously implicated in MM. Damaged genes showed widespread expression on spatial transcriptomics (MERFISH) of early mouse development.

We focus on trios to identify de novo mutations overrepresented in MM. In a 10-year effort from 17 worldwide recruitment sites, we created the Spina Bifida Sequencing Consortium, with 851 trios.

The contribution of de novo coding mutations to meningomyelocele - Nature Exome sequencing of 851 trios from more than 2,500 individuals finds 187 genes with de novo mutations that contribute to meningomyelocele (spina bifida) and highlights critical pathways required for n...

Check out our new paper in @nature that reports genetic mechanisms of neural tube defects in patients. Spina bifida is also known as meningomyelocele (MM). Prior family-based and association studies found only a few linked genes, so we took a different approach.

www.nature.com/articles/s41...

It’s very tough to delete my 23andme account along with my private information. They make it as difficult as possible. I’m following instructions but still in limbo. Have others had problems?

Sooo proud of this year’s gleesonlab alum PhD applicants, garnering admissions at >10 fantastic programs incl. WashU, Stanford, Harvard, UWash, CSRU, Duke, Baylor, and UCSD! Congrats Mari, Swappi, Ashna!
Make us proud!

Excited (but sad) to wish newly minted Prof. Changuk Chung off, to start his lab @KAIST! An amazing postdoc with 10 publications (@Nature x2 and @NatureBiotech, @NatureGenet). He is ready!! Changuk transformed the #devneurosci and #mosaicism fields. Good luck!

Why has #Alzheimers research progress been so slow? Excellent story today in #NYTimes on the plight of research tainted by #eliziermasliah and other fraudsters. This went on right under our noses at at UCSD for years! t.co/FjStpVpcbl

Welcome 2025! Check out our new review on #development, considering human-specific dorsal origin of cortical interneurons. journals.biologists.com/dev/article/....

Does anyone know if #GMKF funding was on or out of the bill passed yesterday?

Did you know San Diego has the world’s largest outdoor organ, with 5,089 pipes! Come enjoy a free holiday concert!

Congrats @elizathwinzler!! @ucsd

Great conversation today with legends @geneyeo @craigventer at the @salkinstitute.bsky.social @natureportfolio.bsky.social mtg on RNA Therapeutics.

I’m new to Bluesky! ‘So far, so good’. I’m learning to ‘unlike’ posts about cats, dogs, and politics!