The Dias Lab

Research

The Dias Lab is broadly interested in two areas 1)human genetics and 2)neurogenetic mechanisms of human brain development and degeneration. We are interested in better understanding the fundamental genetic and molecular mechanisms that make us uniquely human.

Human Genetics:

We study fundamental genetic mechanisms, such as the role that short repetitive genomic elements, play in the human condition. We pilot challenging techniques directly in primary human cells and tissues, such as long read sequencing and single nucleus sequencing. In addition to these cutting-edge approaches, we strive to develop methodologies that do not require specialized expertise or equipment, in order to accelerate study of similar questions more broadly within the scientific community.

Genetic Disorders

We also study genetically defined disorders, such as Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome. We seek to characterize pathophysiology that underlie these uniquely human disorders. We focus on questions historically understudied, such as the role of the X chromosome and non-neuronal cell types in these disorders. We harness developmental context as a critical biological variable that impacts the expression of powerful germ-line genetic drivers.

Cellular Heterogeneity:

The brain is an amazingly complex and heterogeneous tissue and is not immediately accessible for study in the human condition. We are interested in studying the molecular perturbations associated with neurodevelopmental and neurodegenerative disorders in different cellular subtypes in the human brain specifically. In order to do this, we are applying single cell genomic approaches on post-mortem human brain to identify cell-type and region-specific molecular changes related to brain function.

Collaborations:

Collaborative efforts are the only path forward to conduct truly transformative science. We collaborate with laboratories within and outside of our department and university. Within our laboratory, collaborative projects are the norm, and not the exception. We are always looking for new opportunities to develop creative lines of investigation.

Highlighted

Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome
Caroline M. Dias, Biju Issac, Liang Sun, Abigail Lukowicz, Maya Talukdar, Shyam K. Akula, Michael B. Miller, Katherine Walsh, Shira Rockowitz, Christopher A. Walsh
Proceedings of the National Academy of Sciences   ·   30 May 2023   ·   doi:10.1073/pnas.2300052120

All

2023

Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome
Caroline M. Dias, Biju Issac, Liang Sun, Abigail Lukowicz, Maya Talukdar, Shyam K. Akula, Michael B. Miller, Katherine Walsh, Shira Rockowitz, Christopher A. Walsh
Proceedings of the National Academy of Sciences   ·   30 May 2023   ·   doi:10.1073/pnas.2300052120

2022

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
Taejeong Bae, Liana Fasching, Yifan Wang, Joo Heon Shin, Milovan Suvakov, ..., Adriana Cherskov, Liana Fasching, Alexandre Jourdon, Sirisha Pochareddy, Soraya Scuderi
Science   ·   29 Jul 2022   ·   doi:10.1126/science.abm6222

2021

Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder
Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder
Rebeca Borges-Monroy, Chong Chu, Caroline Dias, Jaejoon Choi, Soohyun Lee, Yue Gao, Taehwan Shin, Peter J. Park, Christopher A. Walsh, Eunjung Alice Lee
Mobile DNA   ·   27 Nov 2021   ·   doi:10.1186/s13100-021-00256-w
De novo variants in <scp><i>TCF7L2</i></scp> are associated with a syndromic neurodevelopmental disorder
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Caroline Dias, Rolph Pfundt, Tjitske Kleefstra, Janneke Shuurs‐Hoeijmakers, Elles M. J. Boon, ..., Nicholas Stong, Francois Lecoquierre, Anne‐Marie Guerrot, Aude Charollais, Lance H. Rodan
American Journal of Medical Genetics Part A   ·   18 May 2021   ·   doi:10.1002/ajmg.a.62254
Large mosaic copy number variations confer autism risk
Large mosaic copy number variations confer autism risk
Maxwell A. Sherman, Rachel E. Rodin, Giulio Genovese, Caroline Dias, Alison R. Barton, Ronen E. Mukamel, Bonnie Berger, Peter J. Park, Christopher A. Walsh, Po-Ru Loh
Nature Neuroscience   ·   11 Jan 2021   ·   doi:10.1038/s41593-020-00766-5

2020

Recent Advances in Understanding the Genetic Architecture of Autism
Recent Advances in Understanding the Genetic Architecture of Autism
Caroline M. Dias, Christopher A. Walsh
Annual Review of Genomics and Human Genetics   ·   31 Aug 2020   ·   doi:10.1146/annurev-genom-121219-082309
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, ..., Stephan Ripke, Andrew J. Schork, Wesley K. Thompson, Patrick Turley, Raymond K. Walters
Cell   ·   01 Feb 2020   ·   doi:10.1016/j.cell.2019.12.036

2019

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
Caroline M. Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, ..., James R. Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian
The American Journal of Human Genetics   ·   01 Nov 2019   ·   doi:10.1016/j.ajhg.2019.09.025
Reduced nucleus accumbens enkephalins underlie vulnerability to social defeat stress
Reduced nucleus accumbens enkephalins underlie vulnerability to social defeat stress
Hyungwoo Nam, Ramesh Chandra, T. Chase Francis, Caroline Dias, Joseph F. Cheer, Mary Kay Lobo
Neuropsychopharmacology   ·   27 May 2019   ·   doi:10.1038/s41386-019-0422-8

2017

Regulation of BAZ1A and nucleosome positioning in the nucleus accumbens in response to cocaine
Regulation of BAZ1A and nucleosome positioning in the nucleus accumbens in response to cocaine
HaoSheng Sun, Diane M. Damez-Werno, Kimberly N. Scobie, Ning-Yi Shao, Caroline Dias, ..., Mohamed Kabbaj, Rachael Neve, Gustavo Turecki, Li Shen, Eric J. Nestler
Neuroscience   ·   01 Jun 2017   ·   doi:10.1016/j.neuroscience.2017.04.007

2016

Histone arginine methylation in cocaine action in the nucleus accumbens
Histone arginine methylation in cocaine action in the nucleus accumbens
Diane M. Damez-Werno, HaoSheng Sun, Kimberly N. Scobie, Ningyi Shao, Jaclyn Rabkin, ..., Paola Defilippi, Rachael L. Neve, Yasmin L. Hurd, Li Shen, Eric J. Nestler
Proceedings of the National Academy of Sciences   ·   09 Aug 2016   ·   doi:10.1073/pnas.1605045113
BAZ1B in Nucleus Accumbens Regulates Reward-Related Behaviors in Response to Distinct Emotional Stimuli
BAZ1B in Nucleus Accumbens Regulates Reward-Related Behaviors in Response to Distinct Emotional Stimuli
HaoSheng Sun, Jennifer A. Martin, Craig T. Werner, Zi-Jun Wang, Diane M. Damez-Werno, ..., Ezekiell A. Mouzon, Rachael L. Neve, Li Shen, David M. Dietz, Eric J. Nestler
The Journal of Neuroscience   ·   06 Apr 2016   ·   doi:10.1523/jneurosci.3254-15.2016

2015

Erratum to: Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens
Erratum to: Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens
Jian Feng, Matthew Wilkinson, Xiaochuan Liu, Immanuel Purushothaman, Deveroux Ferguson, ..., Victoria Stockman, Quincey LaPlant, Michael E Cahill, Eric J Nestler, Li Shen
Genome Biology   ·   14 Oct 2015   ·   doi:10.1186/s13059-015-0789-8
ACF chromatin-remodeling complex mediates stress-induced depressive-like behavior
ACF chromatin-remodeling complex mediates stress-induced depressive-like behavior
HaoSheng Sun, Diane M Damez-Werno, Kimberly N Scobie, Ning-Yi Shao, Caroline Dias, ..., Gustavo Turecki, Patrick Varga-Weisz, Carol Tamminga, Li Shen, Eric J Nestler
Nature Medicine   ·   21 Sep 2015   ·   doi:10.1038/nm.3939
Dishevelled-2 regulates cocaine-induced structural plasticity and Rac1 activity in the nucleus accumbens
Dishevelled-2 regulates cocaine-induced structural plasticity and Rac1 activity in the nucleus accumbens
Caroline Dias, David Dietz, Michelle Mazei-Robison, Haosheng Sun, Diane Damez-Werno, ..., Matthew Wilkinson, Jane Magida, Virginia Gao, Rachael Neve, Eric J. Nestler
Neuroscience Letters   ·   01 Jun 2015   ·   doi:10.1016/j.neulet.2015.05.003
Epigenetic basis of opiate suppression of Bdnf gene expression in the ventral tegmental area
Epigenetic basis of opiate suppression of Bdnf gene expression in the ventral tegmental area
Ja Wook Koo, Michelle S Mazei-Robison, Quincey LaPlant, Gabor Egervari, Kevin M Braunscheidel, ..., David M Dietz, Scott J Russo, Rachael L Neve, Yasmin L Hurd, Eric J Nestler
Nature Neuroscience   ·   02 Feb 2015   ·   doi:10.1038/nn.3932

2014

β-catenin mediates stress resilience through Dicer1/microRNA regulation
β-catenin mediates stress resilience through Dicer1/microRNA regulation
Caroline Dias, Jian Feng, Haosheng Sun, Ning yi Shao, Michelle S. Mazei-Robison, ..., Subroto Ghose, Carol Tamminga, Rachael Neve, Li Shen, Eric J. Nestler
Nature   ·   12 Nov 2014   ·   doi:10.1038/nature13976
Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens
Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens
Jian Feng, Matthew Wilkinson, Xiaochuan Liu, Immanuel Purushothaman, Deveroux Ferguson, ..., Victoria Stockman, Quincey LaPlant, Michael E Cahill, Eric J Nestler, Li Shen
Genome Biology   ·   01 Jan 2014   ·   doi:10.1186/gb-2014-15-4-r65

2013

Fluoxetine Epigenetically Alters the CaMKIIα Promoter in Nucleus Accumbens to Regulate ΔFosB Binding and Antidepressant Effects
Fluoxetine Epigenetically Alters the CaMKIIα Promoter in Nucleus Accumbens to Regulate ΔFosB Binding and Antidepressant Effects
A J Robison, Vincent Vialou, Hao-Sheng Sun, Benoit Labonte, Sam A Golden, ..., Gustavo Turecki, Carol Tamminga, Scott Russo, Michelle Mazei-Robison, Eric J Nestler
Neuropsychopharmacology   ·   15 Nov 2013   ·   doi:10.1038/npp.2013.319
Regulator of G protein signaling 4 is a crucial modulator of antidepressant drug action in depression and neuropathic pain models
Regulator of G protein signaling 4 is a crucial modulator of antidepressant drug action in depression and neuropathic pain models
Maria Stratinaki, Artemis Varidaki, Vasiliki Mitsi, Subroto Ghose, Jane Magida, ..., Vincent Vialou, Barbara J. Caldarone, Carol A. Tamminga, Eric J. Nestler, Venetia Zachariou
Proceedings of the National Academy of Sciences   ·   29 Apr 2013   ·   doi:10.1073/pnas.1214696110

2012

Subregional, Dendritic Compartment, and Spine Subtype Specificity in Cocaine Regulation of Dendritic Spines in the Nucleus Accumbens
Subregional, Dendritic Compartment, and Spine Subtype Specificity in Cocaine Regulation of Dendritic Spines in the Nucleus Accumbens
Dani Dumitriu, Quincey LaPlant, Yael S. Grossman, Caroline Dias, William G. Janssen, Scott J. Russo, John H. Morrison, Eric J. Nestler
The Journal of Neuroscience   ·   16 May 2012   ·   doi:10.1523/jneurosci.5718-11.2012
Rac1 is essential in cocaine-induced structural plasticity of nucleus accumbens neurons
Rac1 is essential in cocaine-induced structural plasticity of nucleus accumbens neurons
David M Dietz, Haosheng Sun, Mary Kay Lobo, Michael E Cahill, Benjamin Chadwick, ..., Yi Zheng, Rachael L Neve, Klaus M Hahn, Scott J Russo, Eric J Nestler
Nature Neuroscience   ·   22 Apr 2012   ·   doi:10.1038/nn.3094

2011

A Novel Role of the WNT-Dishevelled-GSK3  Signaling Cascade in the Mouse Nucleus Accumbens in a Social Defeat Model of Depression
A Novel Role of the WNT-Dishevelled-GSK3  Signaling Cascade in the Mouse Nucleus Accumbens in a Social Defeat Model of Depression
M. B. Wilkinson, C. Dias, J. Magida, M. Mazei-Robison, M. Lobo, ..., S. Russo, R. Neve, S. Ghose, C. Tamminga, E. J. Nestler
Journal of Neuroscience   ·   22 Jun 2011   ·   doi:10.1523/jneurosci.0039-11.2011

2008

Untangling the Interplay Among Navigational Strategies Used by the Ant <i>Formica podzolica</i>
Untangling the Interplay Among Navigational Strategies Used by the Ant Formica podzolica
Caroline Marie Dias, Michael D Breed
Annals of the Entomological Society of America   ·   01 Nov 2008   ·   doi:10.1603/0013-8746-101.6.1145