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Aaron Besterman

@abesterman.bsky.social
146 followers 204 following 62 posts

Child & Adolescent Psychiatry | Psychiatric Genetics| Neurodevelopmental Disorders | Precision Medicine

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Reposted by Aaron Besterman
Scott Myers @smyers20.bsky.social · 05/09/2026
Elevated Rates of Gastrointestinal Dysfunction in Children with Neurodevelopmental Disabilities: Not Just an Autism Issue | Sciety share.google/mZJzargL5d1F...
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Elevated Rates of Gastrointestinal Dysfunction in Children with Neurodevelopmental Disabilities: Not Just an Autism Issue
Gastrointestinal (GI) conditions are common among children with neurodevelopmental disabilities (NDDs), and are associated with functional impairment, behavioral symptoms, and increased health care ut...
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Reposted by Aaron Besterman
Yale Kavli Institute for Neuroscience @kavliatyale.bsky.social · 13/04/2026
In a new study, @yale.edu researchers led by @yaleschoolofmed.bsky.social's @ehoffmanlab.bsky.social, MD, PhD 🥼 identified a promising candidate to rescue disrupted brain activity in zebrafish carrying mutations in autism risk genes 🦓🐠
news.yale.edu
Zebrafish reveal new insights into the biology of autism
In a new study, Yale researchers identified drug candidates that reverse disrupted behaviors in zebrafish carrying mutations in autism risk genes.
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Aaron Besterman @abesterman.bsky.social · 07/04/2026
Idaho Cut Services for People With Schizophrenia. Then the Deaths Began. www.nytimes.com/2026/04/07/h...
nytimes.com
Idaho Cut Services for People With Schizophrenia. Then the Deaths Began.
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Reposted by Aaron Besterman
Boca Scientific Inc. @bocascientificinc.bsky.social · 10/03/2026
Researchers @sebatlab.bsky.social utilized long-read whole #genome sequencing and identified new #genetic variants associated with Autism. This enhanced the discovery of variants, leading to the potential for accurate testing and new therapies. #AutismSpectrumDisorder today.ucsd.edu/story/long-r...
today.ucsd.edu
Long-Read Genome Sequencing Uncovers New Autism Gene Variants
By utilizing long-read sequencing, an emerging technique that reads large sections of the genome at once, scientists at UC San Diego have revealed new genetic variants associated with autism spectrum ...
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Reposted by Aaron Besterman
UC San Diego Health Sciences @ucsdhealthsci.bsky.social · 09/03/2026
Out now in @CellGenomics: #LongRead sequencing reveals new genetic variants for #autism. Results could help yield new tests and treatments. #AutismResearch #AutismSpectrum @UCSDMedSchool.bsky.social @cp-cell.bsky.social buff.ly/PgUjYKZ
today.ucsd.edu
Long-Read Genome Sequencing Uncovers New Autism Gene Variants
By utilizing long-read sequencing, an emerging technique that reads large sections of the genome at once, scientists at UC San Diego have revealed new genetic variants associated with autism spectrum…
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Reposted by Aaron Besterman
Filipe De Vadder @filipedevadder.bsky.social · 19/11/2025
New Neuron paper by Mitchell, Dahly, Bishop tears apart the “autism is caused by the microbiome” story. Tiny n, noisy 16S, contradictory taxa, vague “dysbiosis”. It reads like an autopsy of a hype bubble. www.cell.com/neuron/fullt...
cell.com
Conceptual and methodological flaws undermine claims of a link between the gut microbiome and autism
Claims that the gut microbiome causally contributes to autism regularly appear in the scientific literature and popular press. Mitchell et al. critically examine influential studies underpinning these...
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Gregory Kohn @kohngregory.bsky.social · 24/01/2026
Great piece in the NYtimes with quotes from @stairwaytokevin.bsky.social and @sashagusevposts.bsky.social. The misuse of NIH datasets with sensitive personal information for racist aims should be concerning for anybody interested in scientific integrity. www.nytimes.com/2026/01/24/u...
nytimes.com
Genetic Data From Over 20,000 U.S. Children Misused for ‘Race Science’
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Nik Baya @nbaya.bsky.social · 06/01/2026
Why do some individuals defy their polygenic score? In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference? www.medrxiv.org/content/10.6...
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Alex Kwan @alexkwan.bsky.social · 15/12/2025
“Basic neuroscience hasn’t produced new drugs.” 💊 Not true - zuranolone (PPD), suzetrigine (pain), gepants (migraine), and more... were born out of a long arc of studies in the lab. I wrote a Perspective on why this matters. @thetransmitter.bsky.social www.thetransmitter.org/drug-develop...
thetransmitter.org
How basic neuroscience has paved the path to new drugs
A growing list of medications—such as zuranolone for postpartum depression, suzetrigine for pain, and the gepants class of migraine medicines—exist because of insights from basic research.
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Joe Pierre, MD @psychunseen.bsky.social · 22/11/2025
Pre-print of our case of new-onset AI-associated psychosis in a patient with no prior psychotic episodes. Although there have been many such reports in the media, I believe this the first case published in the academic literature. innovationscns.com/youre-not-cr...
innovationscns.com
“You're Not Crazy”: A Case of New-onset AI-associated Psychosis - Innovations in Clinical Neuroscience
Peer-reviewed evidence-based information in neuroscience research and practice, including psychiatry, neurology, psychology
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Aaron Besterman @abesterman.bsky.social · 10/12/2025
Excited for our new study to come out that suggest that clinical genetic testing should perhaps be considered as part of the standard diagnostic evaluation for schizophrenia.
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Eric Topol @erictopol.bsky.social · 10/11/2025
No clear evidence to support any link between maternal acetaminophen (Tylenol) intake and autism or ADHD in offspring, a new umbrella, systematic review @bmj.com
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Jonathan Pritchard @jkpritch.bsky.social · 07/11/2025
Excited to share our latest work on the factors that determine what genes we find (and don't find!) in GWAS and burden tests. We describe a critical concept that we call *specificity*. Led by Jeff Spence and Hakhamanesh Mostafavi:
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The Transmitter @thetransmitter.bsky.social · 03/10/2025
The awarded projects plan to study gene-and-environment interactions in people, stem cells and organoids, as well as predictors of positive life outcomes in autistic youth and adults. By @callimcflurry.bsky.social www.thetransmitter.org/spectrum/mee...
thetransmitter.org
Meet the Autism Data Science Initiative grantees
The projects plan to study gene-and-environment interactions in people, stem cells and organoids, as well as predictors of positive life outcomes.
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Aaron Besterman @abesterman.bsky.social · 03/10/2025
1/ 🚀 New paper out in @BiologicalPsyc1 “Clinical Genetic Testing in Schizophrenia: A Systematic Review and Meta-Analysis.” We synthesize 31 studies to estimate how often clinical genetic testing returns positive results in schizophrenia. www.biologicalpsychiatryjournal.com/article/S000...
biologicalpsychiatryjournal.com
Clinical Genetic Testing in Schizophrenia: A Systematic Review and Meta-Analysis
Genetic testing may provide important diagnostic information for individuals with schizophrenia, but the frequency with which clinically significant variants are identified across different testing ap...
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Reposted by Aaron Besterman
Emil Uffelmann @euffelmann.bsky.social · 27/09/2025
Our new paper is out, in which we developed an approach to transform Polygenic Scores (PGSs) into disorder probabilities (i.e., the absolute lifetime disorder risk). Below a thread 👇 open access link: rdcu.be/eIjvC
rdcu.be
Estimating disorder probability based on polygenic prediction using the BPC approach
Nature Communications - Here the authors present a method to transform polygenic scores into disorder probabilities using only GWAS summary statistics, genotype data and a prior - no tuning sample...
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Aaron Besterman @abesterman.bsky.social · 28/08/2025
1/ Thrilled to share our preprint: “Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype–Phenotype Relationships in the PI3K–AKT–MTOR Pathway.” 🔗 www.medrxiv.org/content/10.1...
medrxiv.org
Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway
Overgrowth intellectual disability syndromes (OGIDs) caused by mutations in the PI3K-AKT-MTOR pathway present significant neurobehavioral challenges. While PTEN Hamartoma Tumor Syndrome (PHTS) has bee...
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Reposted by Aaron Besterman
Jonathan Sebat @sebatlab.bsky.social · 24/07/2025
We and @abesterman.bsky.social detected a TAN-DUP-DEL in a clinical case. Assembly of the complex SV was essential for determining the genetic diagnosis of RFX3 haploinsufficiency. It showed that the DEL occured within the FUNCTIONAL copy of the gene pubmed.ncbi.nlm.nih.gov/40200712/
pubmed.ncbi.nlm.nih.gov
Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation - PubMed
Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation
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Jonathan Sebat @sebatlab.bsky.social · 23/07/2025
Structural variants are significant contributor to autism. But many SVs & TRs are hard to detect with short reads. Long read sequencing with @pacbio.bsky.social and @nanoporetech.com captures and maps out alot of what short reads miss. So what can LR-WGS tell us about autism? 🧵
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Gerome Breen @psychgenomics.bsky.social · 17/06/2025
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
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Reposted by Aaron Besterman
Nicky Whiffin @nickywhiffin.bsky.social · 11/04/2025
🚨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
medrxiv.org
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...
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Aaron Besterman @abesterman.bsky.social · 09/04/2025
🧵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....
psychiatryonline.org
Psychiatry Online
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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Joseph Gleeson @gleesonlab.bsky.social · 26/03/2025
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...
nature.com
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...
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Aaron Besterman @abesterman.bsky.social · 26/03/2025
🧬 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
psychiatryonline.org
Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals | American Journal of Psychiatry
Objective: The authors provide recommendations on incorporating recent advances in psychiatric genetics into clinical practice for mental health clinicians. Method: The International Society for Psych...
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Reposted by Aaron Besterman
Daniel MacArthur @dgmacarthur.bsky.social · 15/03/2025
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...
biorxiv.org
Evidence Aggregator: AI reasoning applied to rare disease diagnostics
Retrieving, reviewing, and synthesizing technical information can be time-consuming and challenging, particularly when requiring specialized expertise, as is the case of variant assessment for rare di...
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Aaron Besterman @abesterman.bsky.social · 14/03/2025
Exciting times for AI in pediatric mental health research!
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Aaron Besterman @abesterman.bsky.social · 25/02/2025
No more clozapine #REMS! Hopefully this will improve access to a very important medication! www.fda.gov/drugs/postma...
fda.gov
Information on Clozapine
Information on Clozapine
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Genetics in Medicine @gimjournal.bsky.social · 20/02/2025
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
Screenshot of Figure 1: Number of patients seen by each CARING clinic physician specialty. Sum of all numbers within each circle provides the total number of patients seen by each physician specialty. The numbers within regions of overlap represent the number of patients seen by each combination of physician specialists. All patients seen by social work (n = 61) and clinical psychology (n = 44) were seen by at least 1 physician in the clinic.
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BWJones @bwjones.bsky.social · 22/01/2025
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.
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Aaron Besterman @abesterman.bsky.social · 22/01/2025
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...
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Aaron Besterman @abesterman.bsky.social · 19/01/2025
www.espn.com/mlb/story/_/...
espn.com
Inspired by daughter, Rangers 1B to wear No. 21
Jake Burger will wear No. 21 with the Rangers to honor his daughter who was born with Down syndrome, which has the clinical name of trisomy 21.
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Fyodor Urnov @urnov.bsky.social · 22/12/2024
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...
nytimes.com
A Woman With a Rare Gene Mutation Fights to Avoid Her Mother’s Fate
A mutant gene is coming to steal Linde Jacobs’s mind. Can she find a way to stop it?
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Aaron Besterman @abesterman.bsky.social · 18/12/2024
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...
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Ardem Patapoutian @ardemp.bskyverified.social · 09/12/2024
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...
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Jacob Vorstman @jacobvorstman.bsky.social · 06/12/2024
@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
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