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Noonan Lab

@noonanlab.bsky.social

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Laboratory of Professor James Noonan | Department of Genetics at Yale University. Science is a team sport. Reposts are not necessarily endorsements. We speak only for ourselves. Website: noonanlab.org

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Noonan Lab @noonanlab.bsky.social · Aug 13

Yale has established a new PhD program in Human Genome Sciences and will be accepting applications this fall. We are also searching for an Associate Director of Student Services (a PhD-level position).

Learn more here:
medicine.yale.edu/bbs/tracks/h...

careers.yale.edu/us/en/job/YU...

Human Genome Sciences

The overall goal of the Human Genome Sciences (HGS) track is to train the next generation of scientists in the areas of human genomics, genetics, and

medicine.yale.edu

Noonan Lab @noonanlab.bsky.social · 15d

We didn't investigate behavioral phenotypes in our model. However our collaborator Rebecca Muhle is studying that question so keep an eye out for results from her group.

Noonan Lab @noonanlab.bsky.social · 15d

Thanks to the SFARI, @simonsfoundation.org, NOMIS Foundation, NICHD, NIGMS, NIMH, Charles H Hood Foundation, and NSF for supporting this work and making this paper possible!

Noonan Lab @noonanlab.bsky.social · 15d

This paper has been a massive undertaking, as can be appreciated by the changes between the published paper and our original preprint: doi.org/10.1101/2024...

Cell type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development

Disruptive variants in the chromodomain helicase CHD8 , which acts as a transcriptional regulator during neurodevelopment, are strongly associated with risk for autism spectrum disorder (ASD). Loss of...

Noonan Lab @noonanlab.bsky.social · 15d

Thanks to @krishnaswamylab.bsky.social and David van Dijk (@vandijklab.bsky.social), who developed a core method in the paper, PHATE, and helped with data analysis in the early phases of the project.

Noonan Lab @noonanlab.bsky.social · 15d

Congratulations to lead authors Kristi Yim, Marybeth Baumgartner (@baumoflife.bsky.social), and Martina Krenzer, in addition to co-authors María Rosales Larios, Mina Hill-Terán, Tim Nottoli, and @rebeccamuhle.bsky.social for their impressive work and perseverance on this project!

Noonan Lab @noonanlab.bsky.social · 15d

These findings suggest that CHD8 loss of function impacts gene regulatory networks and neurogenic potential of early radial glia, with distinct impacts on synaptic development and synaptic signaling of maturing excitatory neurons later in cortical development.

Noonan Lab @noonanlab.bsky.social · 15d

Across excitatory neuron subtypes of the maturing cortex, we detected dysregulation of synaptogenesis, synaptic organization, and synaptic signaling genes, indicative of synaptic immaturity or synaptogenic delay due to CHD8 loss of function.

Noonan Lab @noonanlab.bsky.social · 15d

In radial glia of the early embryonic cortex, genes associated with risk for neurodevelopmental disorders and genes involved in chromatin remodeling, neuron projection development, and migration were downregulated.

Noonan Lab @noonanlab.bsky.social · 15d

CHD8 loss of function had cell-type-biased impacts in the developing mouse cortex, which were dynamic across development. There were distinct signatures in early radial glia, the primary progenitor cell type of the cortex, and in maturing excitatory neurons.

Noonan Lab @noonanlab.bsky.social · 15d

We found that Chd8 and other ASD risk-associated genes had convergent expression patterns that were conserved between the mouse and human developing cortex, with expression peaking in differentiating neurons.

Noonan Lab @noonanlab.bsky.social · 15d

We developed a mouse model of CHD8 loss of function and performed the first published single-cell transcriptomics analysis of the impacts of CHD8 loss of function across mouse cortical development.

Noonan Lab @noonanlab.bsky.social · 15d

Loss-of-function variants in CHD8 are strongly associated with risk of autism spectrum disorder (ASD) and macrocephaly. Previous studies, including work from our lab, implicated CHD8 in broad gene regulation during neurodevelopment, including the direct regulation of other ASD risk-associated genes.

Noonan Lab @noonanlab.bsky.social · 15d

Out in Cell Genomics: A comprehensive analysis of the cell-type-specific effects of CHD8 loss of function on gene expression in the embryonic and juvenile mouse cortex. Thread 🧵:
www.cell.com/cell-genomic...

Cell-type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development

Yim et al. use single-cell transcriptomics to elucidate the molecular outcomes of Chd8 haploinsufficiency in the mouse cortex. Their results provide insight into dynamic, cell-type-biased transcriptio...

Reposted by Noonan Lab

Nadav Ahituv @nadavahituv.bsky.social · 21d

Most neurodevelopmental disorders are caused by having 1 functional gene copy. Using SCN2A, we show that upregulating the functional copy rescues neuronal phenotypes. Amazing work with @neurobender.bsky.social led by Serena Tamura, Andrew Nelson, Perry Spratt & others.
www.nature.com/articles/s41...

CRISPR activation for SCN2A-related neurodevelopmental disorders | Nature

Noonan Lab @noonanlab.bsky.social · Aug 13

Yale has established a new PhD program in Human Genome Sciences and will be accepting applications this fall. We are also searching for an Associate Director of Student Services (a PhD-level position).

Learn more here:
medicine.yale.edu/bbs/tracks/h...

careers.yale.edu/us/en/job/YU...

Human Genome Sciences

The overall goal of the Human Genome Sciences (HGS) track is to train the next generation of scientists in the areas of human genomics, genetics, and

medicine.yale.edu

Reposted by Noonan Lab

Megan Dennis @mydennis.bsky.social · Jul 21

Check out our latest work co-led by @dcsoto.bsky.social and @jmuribescr.bsky.social identifying hundreds of human duplicated gene families using the new T2T-CHM13 assembly, with a focus on those potentially contributing to brain evolution 🧪: authors.elsevier.com/a/1lTQtL7PXu...

authors.elsevier.com

Noonan Lab @noonanlab.bsky.social · Jun 13

So NIMH is no longer supporting F31s, but is still supporting F30s and F32s? I initially thought this might be an error in the FOA (there are a lot more errors popping up now), but it's in the Guide too:
grants.nih.gov/funding/nih-...

NIH Guide for Grants and Contracts | Grants & Funding

Reposted by Noonan Lab

Steve Reilly @stevereilly.bsky.social · Jun 10

After spending tons of time rebutting our trainee's grant termination.. this response doesn't suggest a 'careful assessment'

There aren't mechanisms that support mid-PhD trainees, so theres nothing to apply to, even though it scored in the top % of all apps.
Not to mention the demotivation.
Ugh.

Reposted by Noonan Lab

samuel mehr @mehr.nz · Jun 6

I'm proud of Yale for doing this

Yale backing Harvard in lawsuit against government

In a joint motion with 17 other universities, Yale argues that cutting federal funds to Harvard endangers the nation.

yaledailynews.com

Noonan Lab @noonanlab.bsky.social · May 28

Great article, Caleb! Thanks for writing about our work.

Reposted by Noonan Lab

Caleb Gordon @caleb-m-gordon.bsky.social · May 28

Hey BlueSky! Want to learn more about some almost literally mind-bending brain research being done by @noonanlab.bsky.social?

Check out the story below for one scientist's perspective on the importance of basic scientific research and the pursuit of open-ended questions about what makes us human.

Hybrid brains and the search for what makes us human - the Node

It lives. It lives! What lives, you may ask? Well, somewhere in a lab at Yale University, one young scientist has stuck human brain cells and chimp brain

thenode.biologists.com

Reposted by Noonan Lab

Debby Silver @debbysilver.bsky.social · May 14

Thrilled to share our latest study out in @natureportfolio.nature.com led by the fantastically talented Jing Liu. Our study provides insight into a long standing question in biology: What molecular features make us uniquely human and how do these function? www.nature.com/articles/s41...

A human-specific enhancer fine-tunes radial glia potency and corticogenesis - Nature

HARE5, a human accelerated region enhancer, modulates cortical development by influencing neural progenitor cell behaviour, leading to an enlarged neocortex with increased functional independence betw...

Noonan Lab @noonanlab.bsky.social · May 8

Despite the Times trying to spin this as “Harvard should quit,” the article really (and likely unintentionally) conveys the message “Harvard should absolutely keep fighting.”

www.nytimes.com/2025/05/08/u...

Harvard Leaders See Only Bad Outcomes Ahead as They Battle Trump

www.nytimes.com

Noonan Lab @noonanlab.bsky.social · May 2

It's now part of an art installation on beauty in science, outside of the Yale Med School library. Here's Je Won showing her work:

Our grad student Je Won standing next to her somitoid photo

Noonan Lab @noonanlab.bsky.social · May 2

For #FluorescenceFriday, here's a human-chimpanzee iPSC-derived chimeric somitoid, with human cells shown in red and chimpanzee cells shown in green, made by our student Je Won Yang (1/2):

A human-chimpanzee chimeric somitoid, with human cells in red and chimp cells in green