Dias Lab
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.
Caroline Dias, MD, PhD
Principal Investigator
Caroline was born in Denver but grew up mostly in the beautiful garden state of NJ. She received her BA from Cornell University in Ithaca NY, studying Neurobiology and Behavior. Her undergraduate research experiences included chasing ants with poker chips at the University of Colorado Field Research Station. She subsequently did her MD, PhD at the Icahn School of Medicine at Mount Sinai in NYC, where she completed her dissertation with Dr. Eric Nestler, studying the molecular neurobiology of addiction and depression in mouse models. She did Pediatrics internship/residency at the Boson Combined Residency Program and completed the accelerated research track into Developmental and Behavioral Pediatrics Fellowship, also at Boston Children’s Hospital. It was during her fellowship training that she became interested in understanding the molecular mechanisms of neurodevelopmental disorders. She was fortunate to work in the laboratory of Dr. Christopher Walsh, where she learned about the amazing power of human genetics to illuminate fundamental mechanisms in neurobiology. The mountains called her back to Colorado and she is excited to be starting her lab at the Anschutz Medical Campus. Caroline works clinically in Developmental Pediatrics at the Children’s Hospital of Colorado when not in the lab. Outside of clinic and the lab, Caroline loves exploring Colorado with her husband Mark and their dachshund/toy poodle mix Hazel.
The Dias Lab welcomes applications from individuals at all levels who have an interest in studying the genetics of neurodevelopment. Please send your letter of interest and a CV to Caroline Dias.
For a full list of publications, please see Dr. Dias’ Bibliography
Recent Advances in Understanding the Genetic Architecture of Autism.
Dias CM, Walsh CA.
Annu Rev Genomics Hum Genet. 2020 Aug 31; 21:289-304.
Large mosaic copy number variations confer autism risk.
Sherman MA, Rodin RE, Genovese G, Dias C, Barton AR, Mukamel RE, Berger B, Park PJ, Walsh CA, Loh PR.
Nat Neurosci. 2021 Feb;24(2):197-203.
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, Feichtinger RG, Kotzot D, Mayr JA, Ben-Omran T, Mahmoud L, Pais LS, Walsh CA, Shashi V, Sullivan JA, Stong N, Lecoquierre F, Guerrot AM, Charollais A, Rodan LH.
Am J Med Genet A. 2021 Aug;185(8):2384-2390.
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