Aaron Besterman
@abesterman.bsky.social
Child & Adolescent Psychiatry | Psychiatric Genetics| Neurodevelopmental Disorders | Precision Medicine
Pinned
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...
www.biologicalpsychiatryjournal.com
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...
“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...
Reposted by Aaron Besterman
New study by @abesterman.bsky.social shows that approx. 6% of people with schizophrenia have specific, identifiable genetic variants, which could help inform new genetic tests. Results suggest that genetic testing may be useful for early diagnosis in the future.
🗞️ tinyurl.com/39t8jmkp
🗞️ tinyurl.com/39t8jmkp
November 24, 2025 at 11:31 PM
New study by @abesterman.bsky.social shows that approx. 6% of people with schizophrenia have specific, identifiable genetic variants, which could help inform new genetic tests. Results suggest that genetic testing may be useful for early diagnosis in the future.
🗞️ tinyurl.com/39t8jmkp
🗞️ tinyurl.com/39t8jmkp
Reposted by Aaron Besterman
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
@bmj.com
November 10, 2025 at 12:19 AM
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
@bmj.com
Reposted by Aaron Besterman
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:
We describe a critical concept that we call *specificity*.
Led by Jeff Spence and Hakhamanesh Mostafavi:
How do GWAS and rare variant burden tests rank gene signals?
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
Specificity, length and luck drive gene rankings in association studies - Nature
Genetic association tests prioritize candidate genes based on different criteria.
www.nature.com
November 7, 2025 at 4:08 AM
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:
We describe a critical concept that we call *specificity*.
Led by Jeff Spence and Hakhamanesh Mostafavi:
Reposted by Aaron Besterman
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...
By @callimcflurry.bsky.social
www.thetransmitter.org/spectrum/mee...
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.
www.thetransmitter.org
October 3, 2025 at 9:27 PM
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...
By @callimcflurry.bsky.social
www.thetransmitter.org/spectrum/mee...
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...
“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...
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...
www.biologicalpsychiatryjournal.com
October 3, 2025 at 7:20 PM
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...
“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...
Reposted by Aaron Besterman
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
Below a thread 👇
open access link: rdcu.be/eIjvC
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...
rdcu.be
September 27, 2025 at 2:47 AM
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
Below a thread 👇
open access link: rdcu.be/eIjvC
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...
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...
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...
www.medrxiv.org
August 28, 2025 at 5:32 AM
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...
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...
Reposted by Aaron Besterman
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/
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
pubmed.ncbi.nlm.nih.gov
July 23, 2025 at 11:23 PM
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/
Reposted by Aaron Besterman
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? 🧵
Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism https://www.medrxiv.org/content/10.1101/2025.07.20.25331880v1
July 23, 2025 at 10:53 PM
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? 🧵
Reposted by Aaron Besterman
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
June 17, 2025 at 10:50 AM
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
Reposted by Aaron Besterman
🚨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
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
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...
www.medrxiv.org
April 11, 2025 at 10:00 AM
🚨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
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
🧵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....
🚨 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....
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.
psychiatryonline.org
April 9, 2025 at 6:23 PM
🧵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....
🚨 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....
Reposted by Aaron Besterman
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...
www.nature.com/articles/s41...
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...
www.nature.com
March 26, 2025 at 5:09 PM
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...
www.nature.com/articles/s41...
🧬 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
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
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...
psychiatryonline.org
March 26, 2025 at 5:50 PM
🧬 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
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
Reposted by Aaron Besterman
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...
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...
www.biorxiv.org
March 15, 2025 at 2:44 AM
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...
Exciting times for AI in pediatric mental health research!
March 14, 2025 at 1:17 AM
Exciting times for AI in pediatric mental health research!
No more clozapine #REMS! Hopefully this will improve access to a very important medication!
www.fda.gov/drugs/postma...
www.fda.gov/drugs/postma...
Information on Clozapine
Information on Clozapine
www.fda.gov
February 25, 2025 at 6:02 PM
No more clozapine #REMS! Hopefully this will improve access to a very important medication!
www.fda.gov/drugs/postma...
www.fda.gov/drugs/postma...
Reposted by Aaron Besterman
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
February 20, 2025 at 9:27 PM
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
Reposted by Aaron Besterman
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.
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.
“The impact of the collective executive orders and directives appears devastating.” scim.ag/40ureTO
Trump hits NIH with ‘devastating’ freezes on meetings, travel, communications, and hiring
Researchers facing
scim.ag
January 22, 2025 at 11:32 PM
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.
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.
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...
www.nature.com/articles/s41...
January 22, 2025 at 9:57 PM
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...
www.nature.com/articles/s41...
Reposted by Aaron Besterman
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...
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...
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?
www.nytimes.com
December 22, 2024 at 10:07 PM
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...
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...
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...
December 18, 2024 at 6:11 PM
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...
Reposted by Aaron Besterman
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...
www.nytimes.com/2024/12/09/h...
December 9, 2024 at 11:19 PM
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...
www.nytimes.com/2024/12/09/h...
Reposted by Aaron Besterman
@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
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
December 6, 2024 at 8:38 PM
@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
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