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Linda Crnic Institute


The Crnic Institute supports a thriving community of investigators across the University of Colorado working together on a variety of projects to better understand Down syndrome. 

Basic cellular and molecular mechanisms of Down syndrome

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Mary Allen, PhD

​​Research Assistant Professor, BioFrontiers Institute​​

Transcriptional dysregulation and role of eRNAs in Down syndrome phenotypes​

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Mair Churchill, PhD

Professor, Pharmacology

Investigation of Chromatin Assembly Factor 1 B in Down syndrome neurons

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Angelo D’Alessandro, PhD

Assistant Professor, Biochemistry and Molecular Genetics

Metabolic alterations of trisomy 21​

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Robin Dowell, PhD

Associate Professor, Molecular, Cellular, and Developmental Biology

Allele specific transcriptional and post-transcriptional regulation in Down syndrome

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Katheleen Gardiner, PhD

Clinical Professor, Pediatrics

Exploring protein expression and its impact on cognition in Down syndrome

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​Ken Maclean, PhD           

Professor, Pediatrics

ER stress, impaired proteostasis, autophagy, and lysosomal dysfunction in age-related cognitive decline in Down syndrome​​

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​Roy Parker, PhD

Distinguished Professor, Biochemistry

White matter loss in Down syndrome: a consequence of altered protein biosynthesis?​​

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Chad Pearson, PhD

Assistant Professor, Cell and Developmental Biology

Ciliary trafficking defects and cerebellar hypoplasia in Down syndrome​

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James Roede, PhD

Assistan​t Professor, Pharmaceutical Sciences​

Altered neurogenesis and cognition in Down syndrome via the thiol redox proteome​


Neurological impacts of trisomy 21 and Alzheimer's disease

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Brianna Bettcher, PhD

Assistant Profe​​ssor, Neurosurgery

Inflammation-related cognitive and ​neuroanatomical bases of Down syndrome​​

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Zhe Chen, PhD

Assistant Research Professor, Molecular, Cellular, and Developmental Biology

Characterization of axon myelination in Down syndrome models

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Mark Dell’Acqua, PhD

Professor and Vice Chairman, Pharmacology

Amyloid beta postsynaptic signaling through anchored calcineurin​

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Charles Hoeffer, PhD

Assistant Professor, Integrated Physiology

Targeting dysregulated mitochondrial activity in DS-related Alzheimer's disease​

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Kevin Jones, PhD

Associate Professor, Molecular, Cellular, and Developmental Biology

BDNF augmentation as a therapeutic treatment for Down syndrome​

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Wendy Macklin, PhD

Professor and Chair, Cell and Developmental Biology

The impact of trisomy on CNS myelination in Down syndrome model mice​

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Steven Maier, PhD

Distinguished Professor, Psychology and Neuroscience

The role of microglia and neuroinflammation in cognitive alterations in Down syndrome​

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​William Old, PhD

Assistant Professor, Molecular, Cellular, and Developmental Biology

DYRK1A inhibitor mediated rescue of Down syndrome phenotypes in cerebral organoids​

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​Huntington Potter, PhD

Kurt N. and Edith von Kaulla Memorial Professor of Neurology

Studies aneuploidy and amyloid in Down syndrome Alzheimer's disease​

​Tamim Shaikh, PhD

Associate Professor, Pediatrics

Genetic modifiers of Autism Spectrum Disorders in patients with Down syndrome​​

Immunological impacts of trisomy 21 and interferon signaling

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Matthew Burchill, PhD

Assi​stant Professor, Medicine – Gast​roenterology and Hepatology

The link between regulatory T cells and autoimmune disorders in Down syndrome​

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​​Joaquin Espinosa, PhD

Professor, Pharmacology

Understanding Down syndrome as an interferonopathy

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Elena Hsieh, MD

Assistant Professor, Immunology and Microbiology

Understanding the hyperactive interferon response in trisomy 21 at the single-cell level​

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​Stephanie James, PhD

Assistant Professor, Pharmacy (Regis University)

Impact of trisomy 21 on B cell phenotype and function in adults​​

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​Edward Janoff, MD

Professor, Medicine – Infectious Disease

Impact of trisomy 21 on B cell phenotype and function in adults​

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​Laurel Lenz, PhD

Professor, Immunology and Microbiology 

Mechanisms responsible for increased type I IFN responses in trisomy 21

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​Brian O’Connor, PhD

Associate Professor, Immunology and Microbiology

Examining chromatin regulation of adaptive immune dysfunction in Down syndrome

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​Richard Lee ReinhardtPhD

Assistant Professor, Immunology and Microbiology

Mechanisms of reduced allergic susceptibility in Down syndrome

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​Jingshi Shen, PhD

Associate Professor, Molecular, Cellular, and Developmental Biology

Does trisomy 21 cause dysregulation of cytotoxic lymphocyte-mediated cell killing?

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​Richard Spritz, MD 

Professor, Human Medical Genetics

Genetic analysis of autoimmunity in Down syndrome​

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​Kelly Sullivan, PhD

Assistant Professor, Pediatrics

Defining the impact of the interferon response on Down syndrome phenotypes

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Beth Tamburini, PhD

Assistant Professor of Medicine and Immunology

Impact of immune dysregulation on liver function in Down syndrome​


Cancer, leukemia​, and safer treatments in Down syndrome

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James DeGregori, P​hD

Professor, Biochemistry and Molecular Genetics

Causes and conseq​uences of altered DNA repair in Down syndrome

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Jay Hesselberth, PhD

Associate Professor, Biochemistry and Molecular Genetics

Causes and consequences of altered DNA repair in Down syndrome

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Kelly Maloney, MD

Professor of Pediatrics – Heme/Onc and Bone Marrow Transplantation

Novel non-toxic therapeutic strategies for the treatment of leukemia Down syndrome

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Holly Pacenta, MD

Physician, Pediatrics – Hematology/Oncology, UT Southwestern Medical Center

Novel non-toxic therapeutic strategies for the treatment of leukemia Down syndrome​

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Eric Pietras, PhD

Assistant Professor, Medicine – Hematology 

Interferons as a trigger of hematopoietic chemotoxicity following DS-ALL therapy​

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Rui Yi, PhD

Assistant Professor, Molecular, Cellular, and Developmental Biology

Molecular mechanisms of miR-155 mediated leukemogenesis in Down syndrome​


Developmental and organ-specific impacts of trisomy 21

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Assistant Professor, Medicine – Pulmonary Sciences and Criti​cal Care​

Microengineered a lung-on-a-chip to model Down syndrome airway pathophysiology​

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Assistant Professor, Dermatology

Exploring endothelial progenitor cell defects in Down syndrome​​​

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Csaba Galambos, MD, PhD

Associate Professor, Pathology 

Overexpression of anti-angiogenic genes impairs lung development in Dp16 mice​

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Mike Klymkowsky, PhD

Professor, Molecular, Cellular, and Developmental Biology 

Inductive signaling in human iPSC-derived euploid and trisomic 21 cerebral organoids​

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Niklaus Mueller, PhD

Assistant Research Professor, Ophthalmology

Malformation of the ocular lens in Down syndrome visual impairment​

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Mark Petrash, PhD

Research Professor and Vice Chair of Research, Ophthalmology

Investigation of the cellular and molecular basis of vision defects in Down syndrome​

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Assistant Professor, Medicine – Cardiology

Using iPSC-derived cardiomyocytes to understand congenital heart defects in Down syndrome​

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Assistant Professor, Ophthalmology

Exploring retinal manifestations of Alzheimer’s disease in Down syndrome using iPSC-derived retinol organoids

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Michael Yeager, PhD

Clinical Associate Professor, Bioengineering

Lung immune environment and pneumonia infection in Down syndrome