Tom Dinneen
@tomdinneen.bsky.social
Genomic researcher studying neurodevelopmental conditions @ SickKids, Toronto | All opinions are my own | 🇮🇪🇨🇦
Pinned
Tom Dinneen
@tomdinneen.bsky.social
· Nov 15
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
www.nature.com
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...
www.nature.com/articles/s41...
Reposted by Tom Dinneen
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...
Article: www.nature.com/articles/s41...
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.
www.nature.com
October 1, 2025 at 4:05 PM
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...
Article: www.nature.com/articles/s41...
Reposted by Tom Dinneen
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...
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.
jamanetwork.com
September 22, 2025 at 9:43 AM
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...
Reposted by Tom Dinneen
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...
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...
www.nature.com
September 18, 2025 at 5:25 PM
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...
Reposted by Tom Dinneen
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...
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...
September 15, 2025 at 5:35 PM
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...
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...
Reposted by Tom Dinneen
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
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
After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).
📄 www.medrxiv.org/content/10.1...
📄 www.medrxiv.org/content/10.1...
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...
www.medrxiv.org
September 8, 2025 at 8:43 AM
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
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
Reposted by Tom Dinneen
✅ 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...
Read here: www.nature.com/articles/s41...
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...
www.nature.com
August 6, 2025 at 3:17 PM
✅ 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...
Read here: www.nature.com/articles/s41...
Reposted by Tom Dinneen
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. 🧪👇
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.
www.cell.com
August 7, 2025 at 11:10 AM
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. 🧪👇
Reposted by Tom Dinneen
Nature research paper: Phenotypic complexities of rare heterozygous neurexin-1 deletions
https://go.nature.com/3GebfT7
https://go.nature.com/3GebfT7
Phenotypic complexities of rare heterozygous neurexin-1 deletions - Nature
How NRXN1 variants affect multiple neuropsychiatric disorders is explored.
go.nature.com
April 15, 2025 at 2:24 PM
Nature research paper: Phenotypic complexities of rare heterozygous neurexin-1 deletions
https://go.nature.com/3GebfT7
https://go.nature.com/3GebfT7
Reposted by Tom Dinneen
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 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
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...
www.nature.com
April 11, 2025 at 10:00 AM
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 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
Reposted by Tom Dinneen
"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...
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.
undark.org
March 28, 2025 at 6:47 PM
"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...
Reposted by Tom Dinneen
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.
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.
www.rte.ie
February 18, 2025 at 11:21 AM
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.
Reposted by Tom Dinneen
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
The Chaos in Higher Ed Is Only Getting Started
Grant reviews have been suspended at the NIH. This could be an omen.
theatln.tc
January 28, 2025 at 6:19 PM
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
Reposted by Tom Dinneen
"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
www.lionsroar.com/neurotribes-... #neurodiversity
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.
www.lionsroar.com
January 27, 2025 at 9:24 PM
"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
www.lionsroar.com/neurotribes-... #neurodiversity
Reposted by Tom Dinneen
Common genetic variants contribute more to rare diseases than previously thought www.nature.com/articles/d41... (note that the converse is also true!!!)
Common genetic variants contribute more to rare diseases than previously thought
Assessing the influence of common mutations on rare disease risk.
www.nature.com
November 21, 2024 at 9:40 AM
Common genetic variants contribute more to rare diseases than previously thought www.nature.com/articles/d41... (note that the converse is also true!!!)
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...
www.nature.com/articles/s41...
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
www.nature.com
November 15, 2024 at 6:39 PM
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...
www.nature.com/articles/s41...
Reposted by Tom Dinneen
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?
November 15, 2024 at 6:32 PM
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?