Beate St Pourcain
@bstpourcain.bsky.social
820 followers 160 following 28 posts
genetic epidemiologist, mum of twins, rose gardener, occasional expression of an opinion
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bstpourcain.bsky.social
Big thanks to all our co-authors, and special kudos to @everhoef.bsky.social! @profsimonfisher.bsky.social @luciadehoyos.bsky.social Fenja Schlag, Jeffrey van der Ven, Philip Dale, Evan Kidd Mitchell Olislagers
bstpourcain.bsky.social
Motor abilities in young infants were genetically linked to self-care/symbolic actions in older infants, and, independently, self-care/symbolic actions were linked to infant/toddler language, consistent with ‘gateway’ theories where motor achievements provide social learning opportunities.
bstpourcain.bsky.social
As part of our meta-regression GWAS (preprint doi.org/10.1101/2025...), our PGS predict variation in social context, across outcomes, informants, and, largely, developmental stages, allowing for contextual correlations screens, giving new insight into shared trajectories with mental health.
bstpourcain.bsky.social
The strongest signal found within our social behaviour meta-regression GWAS (doi.org/10.1101/2025...) resided within the CADM2 gene, associated with self-reported (low) prosocial behaviour at ages 9-14 years.
bstpourcain.bsky.social
Our genome-wide meta-regression of social behaviour is out as a preprint! www.biorxiv.org/content/10.1... Wonderful @eagle-genetics.bsky.social work with first author @luciadehoyos.bsky.social!
We model and predict genetic variation according to social context: outcomes, informants and age!
bstpourcain.bsky.social
No. Of course not! We just use scientific wording. It means: if children sing and hum and clap while young, they may achieve better speech later on; the PGS for rhythmicity is a means to verify this link using data based on hundreds of thousands independent people that could clap to a beat.
bstpourcain.bsky.social
Yes, we know, polygenetic overlap is small, that is inherent in these sorts of analyses. However, genetic analyses are done here to add validity to phenotypic analyses. Our genetically informed SEM recaptures our phenotypic SEM quite well, and the phenotypic links are not so small.
bstpourcain.bsky.social
We show that preschool musicality is related to school-age speech-related communication and is partially captured by PGS for rhythmicity. Without claiming causality, the identified links are directionally consistent with development and unrelated to cognition/proxies of EA.
bstpourcain.bsky.social
It was such fun work @luciadehoyos.bsky.social, Ellen Verhoef, ‪@aysuo.bsky.social‬, Janne Vermeulen, Celeste Figaroa, @profsimonfisher.bsky.social, Reyna Gordon and @miriamlense.bsky.social‬!

Thanks for your thoughts and contributions!
bstpourcain.bsky.social
I am absolutely delighted to work together with @yanlinzhou.bsky.social at @mpi-nl.bsky.social as part of her MSCA award, extending collaborations with dieterwolke.bsky.social, @warwicklng.bsky.social and @R2D2mh. Congratulations on your award, Yanlin!
Reposted by Beate St Pourcain
finngen.bsky.social
Million Veteran Program & FinnGen teams are pleased to release v1 meta-analysis of MVP, FinnGen and UKBB GWAS data. This first version includes ~300 binary disease definitions across >1.5 M individuals.
Browse scans at: mvp-ukbb.finngen.fi
bstpourcain.bsky.social
Please join us today for our recorded webinar at adhdeurope.eu "Deciphering genetic links between early language abilities & ADHD" at 15.00 CET!

www.youtube.com/watch?v=YxT1...

Ellen Verhoef and I will discuss our recently published @eagle-genetics.bsky.social work!
tinyurl.com/yx5jht2y
Deciphering genetic links between early language abilities & ADHD
YouTube video by Broadcasting ADHD Europe
www.youtube.com
bstpourcain.bsky.social

I am so proud of my PhD student @luciadehoyos.bsky.social at the Max Planck Institute for Psycholinguistics NL, who won the Outstanding Associate Member Oral Presentation Award #BGA2024 for her work on the social behaviour meta-GWAS in the @eagle-genetics.bsky.social consortium
bstpourcain.bsky.social
Fancy working with us on the genetics (epigenetics) of early language development and social abilities?
We have an open 4-year, fully funded PhD position starting 1 October 2024:
www.mpi.nl/career-educa...
bstpourcain.bsky.social
We are depositing the meta-GWAS summary statistics of early vocabulary size into The Language Archive (TLA) and hope they will spark future research.
www.biologicalpsychiatryjournal.com/article/S000...
 
t.co/5f0SFNf0mb
bstpourcain.bsky.social
That's a shame! It still puzzles me how they got it published given N.
bstpourcain.bsky.social
Could you simulate the data based on their input parameters? The size of SEs given the low N should be enormous and demonstrate the lack of reliable signal.
bstpourcain.bsky.social
Our SFARI-funded work “Structural models of genome-wide covariance identify multiple common dimensions in autism” is just out in Nat Commun! Congratulations to the first author @luciadehoyos.bsky.social, THANK YOU to all co-authors, participants and @simonsfoundation.org! tinyurl.com/yuy6465x
bstpourcain.bsky.social
Congratulations! Amazing news!
bstpourcain.bsky.social
Our study identified genetic associations between children’s early vocabulary size and later-life ADHD, literacy, and general cognition. However, these associations changed dynamically across the first three years of life.
tinyurl.com/bdzxbxv8
bstpourcain.bsky.social
We are looking for a new team member interested in ASD and quantitative genetics to join our group as part of the R2D2 project. We will combine analyses on social behaviour within the EAGLE consortium with studies of ASD in SPARK. Interested? Have a look here:
Postdoctoral Research Scientist Position in Statistical Genomics/Genetic Epidemiology | Max Planck I...
tinyurl.com