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Starting Things This Week is a topic by jonathan slumberprofessor of psychiatry and cellular and molecular medicine at the University of California, San Diego, calls autism research Focus on gene lists.
Every research meeting on autism for the past five years
1) A summary of the heritability of autism from some of the PSC chairs in the field, culminating in “Here is our current gene list”
2) Scientists from genetics and neuroscience: “What are we going to do with this list of genes”
– Jonathan Spatt (@sebatlab) August 23 2022
He tweeted that there is a lot to understand “about genes -> mechanisms -> phenotype in humans that requires it Well-supported human studies. But somehow human research has been reduced to “studies that produce gene lists”. Spatt further explained, “Once the gene is found, the human genes are an afterthought. I have news for you.” One gene does not cause autism. Genetics is just as important in translation! “
The problem IMHO is that “translational” science is considered the prerogative of neuroscience and clinical psychology. Once the gene is found, human genes become an afterthought. I have news for you. One gene does not cause autism. Genetics is just as important in translation!
– Jonathan Spatt (@sebatlab) August 23 2022
He replied, “With all these genetic lists, we have hundreds and hundreds of genes for job descriptions.” Maddy Gilentin, a geneticist at Seattle Children’s Hospital in Washington. She also noted the high cost and difficulty of designing studies that will affect a large number of genetic conditions.
Spat replied, “Clinical studies should not focus on one or two disorders. It is a major scientific problem that requires large-scale collaboration.”
Clinical studies should not focus on one or two disorders. It is a major scientific problem that requires extensive cooperation
– Jonathan Spatt (@sebatlab) August 24, 2022
Michael Gundalassistant professor of psychiatry and biobehavioral sciences at the University of California, Los Angeles, tweeted agreeing that ” master lesson Human genetics taught us that sample size is critical for a robust assessment of allelic influences in the population.”
Can not agree more. But also the main lesson that human genetics has taught us is sample size that is critical for a robust assessment of allelic influences in a population. The same principles will be applied to determine the mechanisms
– Michael Jandal (@mikejg84) August 24, 2022
in a separate topic, Joseph GleesonProfessor of Neurosciences at the University of California, San Diego, unpublished post study that used 33 genetically diverse strains of mice to model mutations in CHD8It is one of the candidate genes for autism.
Gleeson tweeted that the paper “reveals the susceptibility and resilience of individual breeds to # traits related to autism. “
A touching paper by the great Pat Levitt #usc. #CHD8 The lack of the individual in the mouse #CollaborativeCross The background reveals the susceptibility and resilience of individual breeds to #Autismrelated features. So dazzling! https://t.co/K1AbaOCqQ0
– Joseph Gleeson (@jogleeson_ucsd) August 27 2022
“As this study and others show so well, important aspects of biology and disease are overlooked with a unitary focus on one dynastyhe answered Mark ZylkaProfessor of Cell Biology and Physiology at the University of North Carolina at Chapel Hill.
Neuroscientists primarily use C57Bl/6 mice. As this study and others show well, important aspects of biology and disease are overlooked with a unitary focus on a single strain. Others have also found similar stress differences with ALZ, seizures, and pain.
– Mark Zylka (@MarkZylka) August 27 2022
“Grateful to work with Pat and Alison and Ali Pioneering work This study made possible,” tweeted study author Manal Al-Tabbaa, a behavioral researcher at the University of Southern California in Los Angeles.
on another topic, James Mac BartlandProfessor of Child Psychiatry and Psychology at Yale University Child Studies Center study which use electroencephalography (EEG) to track children’s brain responses at rest and during many tasks. A delay in the brain’s response to seeing faces – called N170 – distinguishes children with autism from their non-autistic peers.
The results “provide information about the performance of the EEG biomarker relevant to the next stage of EEG development of vital signs Efforts focus on context of use,” according to the study.
– James C. McPartland (@J_McPartland) August 24, 2022
Long-awaited EEG results from #ABCCT are finally published, showing up beautiful Strong psychological measurementsZack Williams, a medical student and doctoral student at Vanderbilt University in Nashville, Tennessee, wrote in a quoted tweet.
Long-awaited EEG results from #ABCCT Finally, they showed very strong psychometric measurements. Especially impressive #N170 The result is close to the results of EU-AIMS earlier this month! congratulations Tweet embed And hundreds of people have achieved this! https://t.co/eDsBJK2J08
– Zach Williams (@QuantPsychiatry) August 24, 2022
Continuing on the same topic, Williams tweeted, “The N170 ERP in particular has great potential as a ‘stratification biomarker’ that can be used in Subgroup of people with autism into groups that are potentially more biologically homogeneous, facilitating the discovery of treatment effects in clinical trials. “
The N170 ERP in particular has great potential as a ‘stratified biomarker’ that can be used to stratify autistic people into potentially more biologically heterogeneous groups, facilitating the discovery of treatment effects in clinical trials. https://t.co/0bku0tKfpl
– Zach Williams (@QuantPsychiatry) August 26, 2022
My concern is that instead of stratification, this will become a way to exclude people based on “vital signs” detected from biased samples. It is similar to using biased training data in ML. In fact, it will be even worse when we start throwing ML on this data as some of the studies have done.
– Twitter student. Please be patient. Follow Favorite August 27 2022
That’s it in this week’s community newsletter! If you have any suggestions for interesting social posts you’ve seen in the field of autism research, feel free to send an email to [email protected].
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Cite this article: https://doi.org/10.53053/JSUC7488