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...
Happy new year from Sofia!
Now we need a Fu-index
We are hiring an Assistant Professor of Biochemistry and Biophysics at Weill Cornell Medicine. Come join our collaborative research environment with state-of-the-art facilities in NYC! Application review starts Oct 22.
biochem.weill.cornell.edu/join-our-fac...
Please repost: we are recruiting a postdoc for a project in my lab on genes and environment in autism
Many clinicians and scientists agree that spectrum has become too broad. Question for me really is how to split, and what are the objectives? www.nytimes.com/2025/10/01/h...
Says a lot about the state of popular science reporting that some techbro doofus can pretend he's going to be immortal and that will grab more headlines than "Hey we have a gene therapy that slows the advance of Huntington's by 75%," or "We gengineered a pothos into a living air purifier."
Thank you Erica!
thank you
Last but definitely not least is our Neurodiverse Advisory Committee (NAC) consisting of autistic citizens and scientists. In partnership with autismtreeproject.org we have assembled the NAC to provide us with the stakeholders perspective on autism research!
We will also investigate how environmental factors influence clinical outcome of genes in ASD. Samples of many thousands are needed to identify G. Capturing the effects of GxE requires sample sizes of millions. Juicy preliminary data will be posted soon to medrxiv. It takes a village, come join us!
As a novel approach to causal inference, we will use collider effects to find genetic evidence to SUPPORT a causal role of environmental exposure. If E has a strong effect that is uncorrelated with G in the population, genes will explain LESS of the variance in the explosed group!
Our 2022 paper in NG illustrates one example: the observed association of parental age with ausism consists of a mixture of causal pathway E → de novo mutation → ASD; and noncausal pathway Parental age ← polygenic score → ASD
We will use a multi-pronged approach to causal inference using data on G and E in >2 million people, including association, MR and GxE exploring the interplay of exposures with rare and common variation that contributes to ASD, and we will rigorously evaluate rGE in family and population
THE major challenge in epidemiological studies of the environment in autism is the pervasive passive correlation of genes and environment (rGE) that happens in the population, also known horizontal pleiotropy. There are causal effects to be found, but we need to separate correlation from causation
Autism has a strong genetic basis, 100 genes have been identified and we e have multiple independent genetic predictors that have very strong signals in the population. If you are going do and epidemiological study of E, you need to account for G and GxE! pmc.ncbi.nlm.nih.gov/articles/PMC...
We are proud to be one of the 13 projects funded by the NIH Autism Data Science Initiative. Our project: "Elucidating the Interplay of Genes and Environment in Autism Using Genomic and Exposure Data from Large Populations" 🧵www.nytimes.com/2025/09/26/health/autism...
Today's ACIP meeting had a presentation on the genetics of myocarditis following COVID vaccine based on Whole exome sequencing of 50 cases. See time stamp 2:26 www.youtube.com/live/_9ChY9S...
Pfff, big deal. My social media accounts are powered by edibles
If it’s not an exaggeration, and if the shoe fits, wear it. Worst case scenario, someone might actually read your paper
This is it. I cannot explain it, but this is it. This is how -and why- we should be doing science
Bad ass mom of the year 🤘. This was NOT an easy coffee ride. This was the Saturday Cadence Cyclery ride in SD.
