Aaron Besterman
@besterman_a
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Child psychiatry. Psychiatric genetics. Rare neurodevelopmental disease research. Tweets my own. He/His.🇺🇸🇨🇦🇨🇴
San Diego, CA
Joined July 2017
RT @EricTopol: Metformin, the first line drug for Type 2 diabetes, has been used for 60 years without a clearcut mechanism of action. It tu….
science.org
Metformin lowers blood glucose by inhibiting Rap1 in ventromedial hypothalamic neurons that regulate glucose balance.
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RT @sebatlab: On behalf of the CNV analysis workgroup of the @PGCgenetics I'm pleased to share our latest paper "Psychiatric disorders conv….
medrxiv.org
Psychiatric conditions share common genes, but mechanisms that differentiate diagnoses remain unclear. We present a multidimensional framework for functional analysis of rare copy number variants...
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RT @jogleeson_ucsd: Congrats to @MichaelPacold and team for finding a treatment for #hpdl syndrome that we described. Likely the first mito….
nature.com
Nature - Decreased brain coenzyme Q10 levels cause encephalopathy and are associated with neurodegeneration; supplementation with 4-HMA or 4-HB restores coenzyme Q10 synthesis in mice and humans...
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RT @Joshua_RSmith: Did a podcast with @DavidPuder and his team, it was a blast! Check it out if you’re interested in pediatric catatonia or….
podcasts.apple.com
Podcast Episode · Psychiatry & Psychotherapy Podcast · 06/27/2025 · 54m
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RT @drjprogers: New paper on EEG in catatonia from the indefatigable James Luccarelli: ✅144 patients with cataton….
psychiatryonline.org
Objective: Catatonia is an underdiagnosed disorder characterized by speech and motor abnormalities. EEG examinations may improve the accuracy of a catatonia diagnosis, but clinical and electrographic...
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RT @catatoniafdn: The world lost a visionary. Dr. Max Fink was a pioneer in catatonia research and care. At 98, he personally guided three….
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RT @Joshua_RSmith: We have lost a titan. His legacy will live on. Dr. Fink, thank you for your years of championing for care of patients ex….
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RT @drjprogers: What do the genetics of catatonia look like?. See our new systematic review in Psychological Medicine: .
cambridge.org
Genetic abnormalities in catatonia: a systematic review - Volume 55
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RT @doctorveera: Beautiful work demonstrating how common variants modify the penetrance of rare variants in both children and adults with t….
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RT @davidrliu: Today in @ScienceMagazine we report the development of a laboratory-evolved CRISPR-associated transposase (evoCAST) that sup….
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Such an incredibly useful new tool!.
Introducing the Catatonia Quick Screen. The Bush-Francis contains a 14-item screening instrument, but what if 14 items is too long for your proforma/working memory?. Here we found that just 4 items was very nearly as good: More details. .
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RT @JRBneuropsiq: #Psychosis of autoimmune origin? What are the features? Is there a therapeutic response to immunotherapy?. Welcome to our….
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RT @drjprogers: Catatonia in ICD-11. What's new and what's changed?. ⚠️There are some pretty big changes⚠️. Have a look at our new #OpenAc….
bmcpsychiatry.biomedcentral.com
In the International Statistical Classification of Diseases and Related Health Problems Version 11 (ICD-11), the diagnostic criteria for catatonia have been extensively revised. We provide context...
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RT @sebatlab: This is an N-of-1 example of long reads being essential for knowing the functional consequence of a structural variant. But i….
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8/.Huge thanks to patient & family, who generously agreed to share their story. Grateful to the incredible team across psychiatry, genetics, and genomics that made this possible. 🔗 Read the full paper here:. #Psychiatry #Genomics #RareDisease @sebatlab.
psychiatryonline.org
PsychiatryOnline.org is the platform for all American Psychiatric Association Publishing journals, DSM, and bestselling textbooks, as well as APA Practice Guidelines, and continuing medical education.
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7/.Key takeaway:.🧠 For psychiatrists treating neurodevelopmental disorders, genomic tools like LRS can transform diagnosis and care. But using them well requires multidisciplinary collaboration—and thoughtful communication.
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6/.Genetic diagnoses like this do more than end the “diagnostic odyssey.”.They open the door to:.🧠 Understanding biology.🧬 Family cascade testing.👨👩👧👦 Reproductive planning.🧪 Natural history studies.💊 And—someday—targeted therapies.
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5/.We also found something fascinating:.The mother carried the rearrangement in mosaic form—not present in all her cells. This helped explain her lack of symptoms and clarified inheritance for family counseling.
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4/.This rearrangement resulted in RFX3 haploinsufficiency—a loss of function consistent with the patient’s behavioral and developmental profile. A diagnosis that could not have been made with short-read WGS alone.
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3/.🧬 Enter long-read sequencing (LRS):.Unlike short reads (~150bp), LRS captures sequences 10,000–20,000bp long—ideal for detecting complex rearrangements. In this case, LRS uncovered:.🔁 A duplication.🧱 An insertion.✂️ A deletion.…all disrupting RFX3.
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