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...
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
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...
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...
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...
“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...
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...
@erictopol.bsky.social
@smotus.bsky.social
@doctorveera.bsky.social
@j9austin.bsky.social
@jenforsyth.bsky.social
@ispg.bsky.social
@psychunseen.bsky.social
@kingsioppn.bsky.social
@wiringthebrain.bsky.social
@quantpsychiatry.bsky.social
@jacobvorstman.bsky.social
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.
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
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:
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...
@biologicalpsych.bsky.social @ispg.bsky.social
11/ Gratitude to an amazing collaborative team led by Harman Brah. @bogglerapture.bsky.social Pre-proof here: www.biologicalpsychiatryjournal.com/article/S000...
#Schizophrenia #Genetics #Psychiatry #PrecisionMedicine #MetaAnalysis
10/ For clinicians: consider genetics as part of a precision psychiatry approach—useful for prognosis, medical surveillance, reproductive counseling, and occasionally treatment considerations tied to specific variants (see our table of variants with clinical implications).
9/ What could improve yield over time: comprehensive reporting of both CNVs and SNVs, consistent ACMG/AMP interpretation, and attention to variant classes best captured by GS. As databases mature, VUS reclassification may further increase actionable returns.
8/ Clinical take-home: These data do not constitute a practice guideline, but they can inform diagnostic workups—especially for schizophrenia with NDD features or early onset—and motivate services to build genetics pathways and counseling capacity.
7/ Important caveats: substantial heterogeneity (I²≈96%), inconsistent CNV/SNV reporting across studies, and limited geographic representation (notably few data from Latin America, South Asia, Africa). The field needs better standardization and broader sampling.
6/ Context: The Royal College of Psychiatrists has recommended considering CMA in schizophrenia. Our pooled estimate (~6%) is higher than earlier CNV-only figures, reinforcing that genetic testing can be clinically relevant—but standards and reporting practices matter.
5/ Who benefits most (signal from meta-regression): higher yields in schizophrenia with co-occurring NDD features—especially intellectual disability—and earlier age of onset. These groups could be prioritized when considering clinical genetic testing.
4/ Key result: ~6% pooled diagnostic yield (95% CI 4–7%).
By platform: CMA ~6%, ES ~5%, GS ~7%. (Note: confidence intervals overlap; study methods & reporting varied.) This suggests ~1 in 17 patients may receive clinically informative findings.
3/ What we did: Systematic review & random-effects meta-analysis across MEDLINE, EMBASE, and PsycINFO (2007–2023). We pooled platform-specific yields for chromosomal microarray (CMA), exome (ES), and genome sequencing (GS), and ran meta-regressions to probe heterogeneity.
2/ Why this matters: genetic testing is now routine in many neurodevelopmental disorders (ID, ASD, epilepsy), yet adoption in schizophrenia has lagged—due to uncertainty about yield, variable reporting, and limited genetics training in psychiatry. We tackle that evidence gap.
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...
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
12/ SKS & PHTS families who participated
Dr. Julian Martinez-Agosto (UCLA)
@rarediseasectn.bsky.social @rarediseasesint.bsky.social
@autismspeaks.org
@simonsfoundation.org
11/🏁 Takeaway:
Sensory profiles may provide a window into genetic pathogenicity across OGIDs, but variant scores alone aren’t robust prognostic tools.
Individualized neurobehavioral assessment remains essential for diagnosis, prognosis, and intervention planning.
10/🧩 Clinical classification:
Decision tree using behavioral + medical features (e.g., neonatal teeth for PHTS) performed above chance (CV relative error ≈0.67).
Behavioral-only tree also above chance, showing the strength of detailed phenotyping.
9/Combined OGIDs (SKS + PTEN + PI3K–AKT–MTOR SFARI genes):
• CADD ↗ SSP Low Energy & SSP Total
• CADD ↘ SRS-2 Total T
These were the most consistently stable correlations after 1,000 bootstrap resamples.
8/ PTEN-specific:
• CADD ↗ SSP Low Energy (r=0.72)
• CADD ↘ SRS-2 Total T (r=−0.64)
(both bootstrap-stable; p<0.05 uncorrected)
