Lindsay Rizzardi, PhD
@lrizzardi.bsky.social
Assistant Professor
UAB Biochemistry & Molecular Genetics
Functional Genomics | Neuroepigeneticist, chromatin enthusiast | #epigenetics #singlecell Views/posts my own. She/her
UAB Biochemistry & Molecular Genetics
Functional Genomics | Neuroepigeneticist, chromatin enthusiast | #epigenetics #singlecell Views/posts my own. She/her
Reposted by Lindsay Rizzardi, PhD
Excited to share our cross-disorder GWAS analysis of neurological and psychiatric disorders (~1 M cases), now out in @natneuro.nature.com! We show more extensive genetic pleiotropy than previously recognized, supporting a more unified view of these disorders
rdcu.be/ePmwD
rdcu.be/ePmwD
A genome-wide analysis of the shared genetic risk architecture of complex neurological and psychiatric disorders
Nature Neuroscience - Smeland et al. demonstrate greater genetic overlap between neurological and psychiatric disorders than previously recognized, along with diverse neurobiological associations....
rdcu.be
November 12, 2025 at 12:12 PM
Excited to share our cross-disorder GWAS analysis of neurological and psychiatric disorders (~1 M cases), now out in @natneuro.nature.com! We show more extensive genetic pleiotropy than previously recognized, supporting a more unified view of these disorders
rdcu.be/ePmwD
rdcu.be/ePmwD
Reposted by Lindsay Rizzardi, PhD
Our latest paper has just been published in Cell!
doi.org/10.1016/j.ce...
We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.
doi.org/10.1016/j.ce...
We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.
November 5, 2025 at 5:20 PM
Our latest paper has just been published in Cell!
doi.org/10.1016/j.ce...
We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.
doi.org/10.1016/j.ce...
We developed a new method called MCC ultra, which allows 3D chromatin structure to be visualised with a 1 base pair pixel size.
Reposted by Lindsay Rizzardi, PhD
one of the most gratifying things is to see past lab members make new discoveries! our former star PhD @brianjjoseph.bsky.social honed his skills on neural gene regulation and splicing in our lab. check out his new paper @natneuro.nature.com on ALS/FTD mis-splicing driving neural hyperexcitability!
Sharing our latest work, an ALS-related KCNQ2 splice variant that yields a dead channel (no K+ permeability), aggregates in neurons and causes intrinsic hyperexcitability.
Thanks to co-firsts Kelly and Peter, Kiskinis, Eggan and Fratta groups and others.
www.nature.com/articles/s41...
Thanks to co-firsts Kelly and Peter, Kiskinis, Eggan and Fratta groups and others.
www.nature.com/articles/s41...
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD - Nature Neuroscience
TDP-43 dysfunction in ALS/FTD causes faulty splicing of the KCNQ2 ion channel, leading to toxic protein buildup, neuron hyperactivity and a potential new biomarker and treatment target using RNA-based...
www.nature.com
November 4, 2025 at 6:37 PM
one of the most gratifying things is to see past lab members make new discoveries! our former star PhD @brianjjoseph.bsky.social honed his skills on neural gene regulation and splicing in our lab. check out his new paper @natneuro.nature.com on ALS/FTD mis-splicing driving neural hyperexcitability!
Reposted by Lindsay Rizzardi, PhD
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
A big step for precision medicine!
www.nature.com/articles/s41...
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database - Nature Communications
Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…
www.nature.com
November 4, 2025 at 3:06 PM
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
A big step for precision medicine!
www.nature.com/articles/s41...
Reposted by Lindsay Rizzardi, PhD
Thrilled to share our latest preprint using single nuq sequencing and Xenium to define neuron organisation and sex differences in glia within human spinal cord. Truly a collaborative effort, with a big shoutout to Katherin Gabriel and @tedpricethepainguy.bsky.social
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
A molecular map of the human spinal dorsal and ventral horn defines arrangement of neuronal types and glial sex differences
The spinal cord is the gateway for sensory information from the body as it ascends to the brain, as well as a major motor output center of the nervous system. It is also a key location for sensory-mot...
www.biorxiv.org
November 1, 2025 at 10:46 AM
Thrilled to share our latest preprint using single nuq sequencing and Xenium to define neuron organisation and sex differences in glia within human spinal cord. Truly a collaborative effort, with a big shoutout to Katherin Gabriel and @tedpricethepainguy.bsky.social
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Reposted by Lindsay Rizzardi, PhD
Got with the times + made a BSky to share our new, large-scale spatial RNAseq study of adult human #locuscoeruleus! Co-1st auth and cryostat wizard @heenadivecha.bsky.social squeezed 85 tissue sections into 43 Visium arrays. (1/8)
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Impact of Alzheimer's disease risk factors and local neuromelanin content on the transcriptomic landscape of the human locus coeruleus
The locus coeruleus (LC) is a small noradrenergic nucleus in the dorsal pons that sends projections across the brain regulating sleep, arousal, attention, stress responses, and some forms of cognition...
www.biorxiv.org
October 31, 2025 at 3:42 PM
Got with the times + made a BSky to share our new, large-scale spatial RNAseq study of adult human #locuscoeruleus! Co-1st auth and cryostat wizard @heenadivecha.bsky.social squeezed 85 tissue sections into 43 Visium arrays. (1/8)
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Reposted by Lindsay Rizzardi, PhD
Happy to share our latest work led by @kevincziegler.bsky.social and Aydan Askarova, examining cell type contributions of vascular cell types to dementia risk. Many thanks to the donors, and for support from @ukdri.ac.uk and @alzassociation.bsky.social.
www.cell.com/neuron/fullt...
www.cell.com/neuron/fullt...
October 31, 2025 at 10:10 AM
Happy to share our latest work led by @kevincziegler.bsky.social and Aydan Askarova, examining cell type contributions of vascular cell types to dementia risk. Many thanks to the donors, and for support from @ukdri.ac.uk and @alzassociation.bsky.social.
www.cell.com/neuron/fullt...
www.cell.com/neuron/fullt...
Reposted by Lindsay Rizzardi, PhD
This is such an interesting paper. Why? Because the binding of transcription factor (TF) proteins to DNA governs how our genes are turned on/off/up/down, & so is the primary issue for how our genes work in development and how our cells respond to just about anything.🧵
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Multiple overlapping binding sites determine transcription factor occupancy - Nature
A new method enables comprehensive screening and identification of low-affinity DNA binding sites for transcription factors, and reveals that nucleotides flanking high-affinity binding sites create ov...
www.nature.com
October 30, 2025 at 11:04 PM
This is such an interesting paper. Why? Because the binding of transcription factor (TF) proteins to DNA governs how our genes are turned on/off/up/down, & so is the primary issue for how our genes work in development and how our cells respond to just about anything.🧵
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Lindsay Rizzardi, PhD
A new, nerdy paper. We figured out (some) of the rules underlying cell-permeability of probes and designed ligands that light up, grab, and move proteins around. Awesome @hhmijanelia.bsky.social x @uwmadison.bsky.social x @stjuderesearch.bsky.social collaboration! www.pnas.org/doi/10.1073/...
PNAS
Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...
www.pnas.org
October 27, 2025 at 9:43 PM
A new, nerdy paper. We figured out (some) of the rules underlying cell-permeability of probes and designed ligands that light up, grab, and move proteins around. Awesome @hhmijanelia.bsky.social x @uwmadison.bsky.social x @stjuderesearch.bsky.social collaboration! www.pnas.org/doi/10.1073/...
Reposted by Lindsay Rizzardi, PhD
Excited to share our new preprint on molecular gene x treatment interactions led by Jordan Valone, Brandon Le, and @nanamatoba.bsky.social. www.medrxiv.org/content/10.1.... Here, we tried to further develop the "pharmacogenomics in a dish" approach for psychiatry.
Assessing molecular gene by treatment interactions using a population of neural progenitors exposed to valproic acid and lithium
Gene by treatment (GxT) interactions likely contribute to variability in clinical response, but are difficult to identify in population studies. Here, we applied psychiatric and neurological disorder ...
www.medrxiv.org
October 27, 2025 at 3:21 PM
Excited to share our new preprint on molecular gene x treatment interactions led by Jordan Valone, Brandon Le, and @nanamatoba.bsky.social. www.medrxiv.org/content/10.1.... Here, we tried to further develop the "pharmacogenomics in a dish" approach for psychiatry.
Reposted by Lindsay Rizzardi, PhD
Thank you Alzforum for featuring our new preprint identifying regulators of disease states of #microglia.
Project led by Amanda McQuade, computation by Reet Mishra, collaboration with the Nunez and De Jager labs.
Alzforum
www.alzforum.org/news/researc...
Preprint
www.biorxiv.org/content/10.1...
Project led by Amanda McQuade, computation by Reet Mishra, collaboration with the Nunez and De Jager labs.
Alzforum
www.alzforum.org/news/researc...
Preprint
www.biorxiv.org/content/10.1...
October 22, 2025 at 6:28 PM
Thank you Alzforum for featuring our new preprint identifying regulators of disease states of #microglia.
Project led by Amanda McQuade, computation by Reet Mishra, collaboration with the Nunez and De Jager labs.
Alzforum
www.alzforum.org/news/researc...
Preprint
www.biorxiv.org/content/10.1...
Project led by Amanda McQuade, computation by Reet Mishra, collaboration with the Nunez and De Jager labs.
Alzforum
www.alzforum.org/news/researc...
Preprint
www.biorxiv.org/content/10.1...
Reposted by Lindsay Rizzardi, PhD
This article is a homecoming for me.
As a PhD student, I focused on the growth-rate transcriptional regulation in yeast.
Now, ~ 20 years later, we report protein regulation scaling with the growth rates of single cells in mammalian tissues.
www.biorxiv.org/content/10.1...
As a PhD student, I focused on the growth-rate transcriptional regulation in yeast.
Now, ~ 20 years later, we report protein regulation scaling with the growth rates of single cells in mammalian tissues.
www.biorxiv.org/content/10.1...
Principles of protein abundance regulation across single cells in a mammalian tissue
Protein synthesis and clearance are major regulatory steps of gene expression, but their in vivo regulatory roles across the cells comprising complex tissues remains unexplored. Here, we systematicall...
www.biorxiv.org
October 18, 2025 at 11:56 AM
This article is a homecoming for me.
As a PhD student, I focused on the growth-rate transcriptional regulation in yeast.
Now, ~ 20 years later, we report protein regulation scaling with the growth rates of single cells in mammalian tissues.
www.biorxiv.org/content/10.1...
As a PhD student, I focused on the growth-rate transcriptional regulation in yeast.
Now, ~ 20 years later, we report protein regulation scaling with the growth rates of single cells in mammalian tissues.
www.biorxiv.org/content/10.1...
Reposted by Lindsay Rizzardi, PhD
Excited to share our paper on dynamics of microcompartments during M-to-G1 is now published in @natsmb.nature.com www.nature.com/articles/s41...
Compared to biorxiv, published includes new analysis from James Jusuf and Viraat Goel (from @andersshansen.bsky.social lab) on transcriptional spiking
Compared to biorxiv, published includes new analysis from James Jusuf and Viraat Goel (from @andersshansen.bsky.social lab) on transcriptional spiking
October 17, 2025 at 2:58 PM
Excited to share our paper on dynamics of microcompartments during M-to-G1 is now published in @natsmb.nature.com www.nature.com/articles/s41...
Compared to biorxiv, published includes new analysis from James Jusuf and Viraat Goel (from @andersshansen.bsky.social lab) on transcriptional spiking
Compared to biorxiv, published includes new analysis from James Jusuf and Viraat Goel (from @andersshansen.bsky.social lab) on transcriptional spiking
Reposted by Lindsay Rizzardi, PhD
Reposted by Lindsay Rizzardi, PhD
What is a promoter? And how does it work?
We very happy to share our latest work trying to understand enhancer-promoter compatibility.
I am very excited about the results of @blanka-majchrzycka.bsky.social, which changed the way I think about promoters
www.biorxiv.org/content/10.1...
We very happy to share our latest work trying to understand enhancer-promoter compatibility.
I am very excited about the results of @blanka-majchrzycka.bsky.social, which changed the way I think about promoters
www.biorxiv.org/content/10.1...
Enhancer-promoter compatibility is mediated by the promoter-proximal region
Gene promoters induce transcription in response to distal enhancers. How enhancers specifically activate their target promoter while bypassing other promoters remains unclear. Here, we find that the p...
www.biorxiv.org
October 16, 2025 at 3:06 PM
What is a promoter? And how does it work?
We very happy to share our latest work trying to understand enhancer-promoter compatibility.
I am very excited about the results of @blanka-majchrzycka.bsky.social, which changed the way I think about promoters
www.biorxiv.org/content/10.1...
We very happy to share our latest work trying to understand enhancer-promoter compatibility.
I am very excited about the results of @blanka-majchrzycka.bsky.social, which changed the way I think about promoters
www.biorxiv.org/content/10.1...
Reposted by Lindsay Rizzardi, PhD
In this episode of the Epigenetics Podcast, we talked with Ryan Corces from @gladstoneinst.bsky.social about his work on the impact of chromatin architecture on Alzheimer's and Parkinson's Disease. #podacst #chromatin #epigenetics #ATAC-Seq
Listen here: www.activemotif.com/podcasts-rya...
Listen here: www.activemotif.com/podcasts-rya...
October 17, 2025 at 8:13 AM
In this episode of the Epigenetics Podcast, we talked with Ryan Corces from @gladstoneinst.bsky.social about his work on the impact of chromatin architecture on Alzheimer's and Parkinson's Disease. #podacst #chromatin #epigenetics #ATAC-Seq
Listen here: www.activemotif.com/podcasts-rya...
Listen here: www.activemotif.com/podcasts-rya...
Reposted by Lindsay Rizzardi, PhD
Now out in Science! Cyclin-dependent kinases (CDKs) are key regulators of the cell cycle. In @vcushing.bsky.social's magnum opus, we use #cryoEM to figure out how the CDK-activating kinase recognises CDKs to fully activate them - a key step in cell cycle control.
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Structural basis of T-loop–independent recognition and activation of CDKs by the CDK-activating kinase
Cyclin-dependent kinases (CDKs) are prototypical regulators of the cell cycle. The CDK-activating kinase (CAK) acts as a master regulator of CDK activity by catalyzing the activating phosphorylation o...
www.science.org
October 16, 2025 at 7:17 PM
Now out in Science! Cyclin-dependent kinases (CDKs) are key regulators of the cell cycle. In @vcushing.bsky.social's magnum opus, we use #cryoEM to figure out how the CDK-activating kinase recognises CDKs to fully activate them - a key step in cell cycle control.
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Reposted by Lindsay Rizzardi, PhD
"Genes, Traits, and Identities: Navigating Sex, Gender, and Sexuality in Modern Research"
Frequently the trans and intersex communities are excluded from population-based genomics studies because they cannot be put in a neat box. But sex is a complex trait, like many other traits we study #ASHG25
Frequently the trans and intersex communities are excluded from population-based genomics studies because they cannot be put in a neat box. But sex is a complex trait, like many other traits we study #ASHG25
October 15, 2025 at 12:34 PM
"Genes, Traits, and Identities: Navigating Sex, Gender, and Sexuality in Modern Research"
Frequently the trans and intersex communities are excluded from population-based genomics studies because they cannot be put in a neat box. But sex is a complex trait, like many other traits we study #ASHG25
Frequently the trans and intersex communities are excluded from population-based genomics studies because they cannot be put in a neat box. But sex is a complex trait, like many other traits we study #ASHG25
Today at #ASHG25 I will talk about the work of a talented graduate student Dev Raj Bhattarai on cell type-specific isoform expression in Alzheimer's disease at the @nanoporetech.com Education Session (12pm Rm 153). Dev will also present his work today at poster 9228T.
October 16, 2025 at 12:30 PM
Today at #ASHG25 I will talk about the work of a talented graduate student Dev Raj Bhattarai on cell type-specific isoform expression in Alzheimer's disease at the @nanoporetech.com Education Session (12pm Rm 153). Dev will also present his work today at poster 9228T.
Reposted by Lindsay Rizzardi, PhD
Today at #ASHG2025 Adam Davidovich will talk about our work on inheritance of DNA methylation patterns in mice with some interesting biology, including (to our knowledge) the first paramutation naturally occurring in mammals.
Room 210C at 11am.
Room 210C at 11am.
October 16, 2025 at 11:50 AM
Today at #ASHG2025 Adam Davidovich will talk about our work on inheritance of DNA methylation patterns in mice with some interesting biology, including (to our knowledge) the first paramutation naturally occurring in mammals.
Room 210C at 11am.
Room 210C at 11am.
Reposted by Lindsay Rizzardi, PhD
BIG ANNOUNCEMENT📣: I haven’t been this excited to be part of something new in 15 years… Thrilled to reveal the passion project I’ve been working on for the past year and a half!🙀🥳 (thread 👇)
October 15, 2025 at 12:22 PM
BIG ANNOUNCEMENT📣: I haven’t been this excited to be part of something new in 15 years… Thrilled to reveal the passion project I’ve been working on for the past year and a half!🙀🥳 (thread 👇)
Reposted by Lindsay Rizzardi, PhD
I am thrilled to share our latest story led by the incredibly talented Brooke D’Arcy and Camila Musso. We discover a rich world of local gene expression in radial glia, essential neural and glial precursors, and develop a new method for sub-cellular mRNA manipulation. www.biorxiv.org/content/10.1...
October 10, 2025 at 10:28 PM
I am thrilled to share our latest story led by the incredibly talented Brooke D’Arcy and Camila Musso. We discover a rich world of local gene expression in radial glia, essential neural and glial precursors, and develop a new method for sub-cellular mRNA manipulation. www.biorxiv.org/content/10.1...