Polygenic and developmental profiles of autism differ by age at diagnosis - Nature A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

This was a fantastic collaboration with lots of people including @hilarycmartin.bsky.social @jakobgrove.bsky.social, Experts by Experience, and several others who I can't seem to find on this app.

Article: www.nature.com/articles/s41...

Acetaminophen Use During Pregnancy and Children’s Risk of Autism, ADHD, and Intellectual Disability This nationwide cohort study with sibling control analysis examines the association of acetaminophen use during pregnancy with children’s risk of autism, ADHD, and intellectual disability.

The @washingtonpost.com story on Tylenol & autism leaves out a MAJOR 2.5M sibling-controlled study of children in Denmark, which "found no evidence that acetaminophen use during pregnancy was associated with children’s risk of autism, ADHD or intellectual disability." jamanetwork.com/journals/jam...

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects - Nature Genetics Genome-wide analyses for 7,266 traits leveraging data from several genetic ancestry groups in UK Biobank identify new associations and enhance resources for interpreting risk variants across diverse p...

A project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: www.nature.com/articles/s41...

Conference title: Dialectical Biology Today: Legacies of Richard Lewontin, and image of Lewontin in Black and White with intense expression in front of a chalkboard holding up a fist, When and Where Friday, October 10, 2025 11:30 am to Sunday, October 12, 2025 2:00 pm Music Room (218) Goldring Student Centre 150 Charles St W, Toronto, ON M5S 1K5 | and online via Zoom

I'm excited to share with you all a conference I'm planning Oct. 10-12: Dialectical Biology Today: Legacies of Richard Lewontin.

It will be hybrid in Toronto and on zoom, so please join us however you can! Register for zoom link here: ihpst.utoronto.ca/events/diale...

While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior.

These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy

🧵 by the amazing @christeldepienne.bsky.social 👇

1/3

Whole-genome sequencing of 490,640 UK Biobank participants - Nature A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation a...

✅ Published in @natureportfolio.nature.com today, the paper describing the initial whole-genome sequencing analysis of 500,000 UK Biobank participants.

Read here: www.nature.com/articles/s41...

Notes from Beethoven’s genome Wesseldijk et al. compare the genomic information collected from Ludwig van Beethoven with population-based datasets used to quantify musical achievement.

If someone you know buys into claims about "genetic optimization" of embryos using polygenic scores of cognition, just send them our 2024 paper on Beethoven & musicality. We wrote it to help communicate limits of individual-level genetic predictions & complexity of links between DNA & behaviour. 🧪👇

Phenotypic complexities of rare heterozygous neurexin-1 deletions - Nature How NRXN1 variants affect multiple neuropsychiatric disorders is explored.

Nature research paper: Phenotypic complexities of rare heterozygous neurexin-1 deletions

https://go.nature.com/3GebfT7

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome - Nature The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is...

Almost exactly a year since our first preprint on RNU4-2

In that, we showed that de novo variants in an 18 nucleotide region (the critical region, or CR) cause a remarkably prevalent neurodevelopmental disorder (NDD), now called ReNU syndrome.

Published here: www.nature.com/articles/s41...

2/12

In Genetics, a Tense Coexistence of Mainstream and Fringe Views In an era of open data, genome-wide association studies have become entangled with efforts to prove Black inferiority.

"I wanted to have that be clear — that he’s not on my team and I’m not on his" - me on Emil Kirkegaard in this great piece from @undark.org: undark.org/2025/03/26/u...

Functionally blind man gets sight back after gene therapy A 31-year-old Sligo man who was functionally blind has got his sight back, after being treated with a new gene therapy at the Mater University Hospital in Dublin.

A 31-year-old Sligo man who was functionally blind has got his sight back, after being treated with a new gene therapy at the Mater University Hospital in Dublin.

The Chaos in Higher Ed Is Only Getting Started Grant reviews have been suspended at the NIH. This could be an omen.

The fact that NIH grant-making has been switched off so haphazardly, for reasons that remain unclear, and despite the scope of troubles it creates, suggests that higher ed will be profoundly vulnerable during the second Trump era, writes @ibogost.bsky.social: theatln.tc/e1Ng2ddw

Neurotribes: The New Diversity Steve Silberman’s book, "Neurotribes: The Legacy of Autism and the Future of Neurodiversity," is changing the way we think about cognitive differences.

"Autism has always been part of the human community. The reason we don’t think so is because autistic people were kept behind the walls of institutions for most of the 20th century, or they got no diagnosis at all." Per @stevesilberman.bsky.social

www.lionsroar.com/neurotribes-... #neurodiversity

Common genetic variants contribute more to rare diseases than previously thought Assessing the influence of common mutations on rare disease risk.

Common genetic variants contribute more to rare diseases than previously thought www.nature.com/articles/d41... (note that the converse is also true!!!)

Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank - npj Genomic Medicine npj Genomic Medicine - Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank

Check out our paper published in npj Genomic Medicine on the contributions of additional genetic variation to cognitive outcomes in carriers of neurodevelopmental associated copy number variants (ND-CNV)

www.nature.com/articles/s41...

RFKJ supporters are like “he’s just asking questions, what’s wrong with that” and the questions are like why do vaccines cause super autism in children exposed to WiFi radiation?