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abesterman.bsky.social
Child & Adolescent Psychiatry | Psychiatric Genetics| Neurodevelopmental Disorders | Precision Medicine
35 posts 102 followers 194 following
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Excited about our new preprint: 1st successful genome-wide study of >61,000 panic attack and 29,000 panic disorder cases. www.medrxiv.org/content/10.1... We find 17 associations & evidence that peripheral neurons in eye, lungs and heart are involved in panic & other psychiatric disorders 1/n

submitted 10 days ago • 1 comment

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12

submitted 77 days ago • 4 comments

🧵1/ 🚨 New paper out in The American Journal of Psychiatry! We report a rare case where long-read genome sequencing (LRS) revealed a complex genetic rearrangement missed by standard tests—reshaping diagnosis & care in clinical psychiatry. 🔗 psychiatryonline.org/doi/epdf/10....

submitted 78 days ago • 1 comment

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...

submitted 92 days ago • 2 comments

🧬 NEW PAPER OUT! Thrilled to share our new manuscript, led by the Education Committee of the @ispg.bsky.social @j9austin.bsky.social 📄 "Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals" 🔗 psychiatryonline.org/doi/10.1176/... 🧵 A thread

submitted 92 days ago • 2 comments

New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...

submitted 104 days ago • 3 comments

Exciting times for AI in pediatric mental health research!

submitted 105 days ago • 0 comments

No more clozapine #REMS! Hopefully this will improve access to a very important medication! www.fda.gov/drugs/postma...

submitted 121 days ago • 0 comments

UCLA's NDD multidisciplinary clinic achieved >40% diagnostic yield through genetic testing; all diagnosed patients had management changes, including specialty referrals, cascade testing, and medication adjustments bit.ly/4k1Molb @abesterman.bsky.social

submitted 126 days ago • 0 comments

This is not hyperbole. This is an unmitigated disaster for biomedical science and reflect how central to American life and productivity NIH funding is. This funding drives the economy and contributes to the health and wellbeing of the entire country.

submitted 155 days ago • 8 comments

1/A fascinating figure that reveals so much about both genetics and clinical psychiatry from a great new #bipolar #genetics paper out in @nature.com www.nature.com/articles/s41...

submitted 155 days ago • 1 comment

www.espn.com/mlb/story/_/...

submitted 159 days ago • 0 comments

Hear me loud and clear, please. The sole path to safely gene-edit people such as this remarkable family - is to gene-edit more people. More CRISPR trials for N=rare in blood, liver, eye, lung - will pave the way for editing the brain. www.nytimes.com/2024/12/22/h...

submitted 186 days ago • 2 comments

1/ Hello Bluesky! My official first post and an exciting one for me! I'm proud to be able to share some work that is be in development for some time with @shafalijeste.bsky.social and Julian Martinez-Agosto, my mentors at #ucla: www.sciencedirect.com/science/arti...

submitted 190 days ago • 1 comment

I joined 75+ @nobelprize.bsky.social laureates urging US Senators to oppose RFK Jr.'s confirmation as DHHS Secretary. If you’re in a state with GOP senators, PLEASE reach out to them! I’d deeply appreciate it if you amplified this post! 🙏 www.nytimes.com/2024/12/09/h...

submitted 199 days ago • 14 comments

@abesterman.bsky.social, @shafalijeste.bsky.social et al. describe the Research in Neurogenetics (CARING) Clinic Paper in GiM (tinyurl.com/5byecm8e) & coverage in Neurology Today (tinyurl.com/ycyw7m87) Another step towards precision health care for children with genetic vulnerability for NDDs

submitted 202 days ago • 0 comments