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. 

Key areas of Down syndrome research pursued by our faculty include:

Basic cellular and molecular mechanisms of Down syndrome

Allen, Mary

Mary Allen, PhD

​​Research Assistant Professor, BioFrontiers Institute​​

Transcriptional dysregulation and role of eRNAs in Down syndrome phenotypes​

Blumenthal, Tom

Thomas Blumenthal, PhD

Professor Emeritus, Molecular, Cellular, and Developmental Biology

Protein biomarkers associated with common Down syndrome comorbidities

Churchill, Mair

Mair ​Churchill, PhD

Professor, Pharmacology

Investigation of Chromatin Assembly Factor 1 B in Down syndrome neurons

DAlessandro, Angelo

Angelo D’Alessandro, PhD

Assistant Professor, Biochemistry and Molecular Genetics

Metabolic alterations of trisomy 21​

Dowell, Robin

Robin Dowell, PhD

Associate Professor, Molecular, Cellular, and Developmental Biology

Transcriptional and post-transcriptional regulation in Down syndrome​

Gardiner, Katheleen

Katheleen Gardiner, PhD

Clinical Professor, Pediatrics

Exploring protein expression and its impact on cognition in Down syndrome

Maclean, Ken

Ken Maclean, PhD      

Professor, Pediatrics

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

Parker, Roy

Roy Parker, PhD

Distinguished Professor, Biochemistry

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

Pearson, Chad

Chad Pearson, PhD

Assistant Professor, Cell and Developmental Biology

Ciliary trafficking defects and cerebellar hypoplasia in Down syndrome

Roede, James

James Roede, PhD

Assistan​t Professor, Pharmaceutical Sciences​

Altered neurogenesis and cognition via the thiol redox proteome

Neurological impacts of trisomy 21 and Alzheimer's disease

Bettcher, Brianne

Brianna Bettcher, PhD

Assistant Profe​​ssor, Neurosurgery

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

Chen, Zhe

Zhe Chen, PhD

Assistant Research Professor, Molecular, Cellular, and Developmental Biology

Characterization of axon myelination in Down syndrome models

DellAcqua, Mark

Mark Dell’Acqua, PhD

Professor and Vice Chairman, Pharmacology

Amyloid beta postsynaptic signaling through anchored calcineurin

Hoeffer, Charles

Charles Hoeffer, PhD

Assistant Professor, Integrated Physiology

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

Jones, Kevin

Kevin Jones, PhD

Associate Professor, Molecular, Cellular, and Developmental Biology

BDNF augmentation as a therapeutic treatment for Down syndrome​

Macklin, Wendy

Wendy Macklin, PhD

Professor and Chair, Cell and Developmental Biology

CNS myelination in a mouse model of Down syndrome

Maier, Steven

Steven Maier, PhD

Distinguished Professor, Psychology and Neuroscience

The role of microglia in cognitive alterations in Down syndrome​

Old, William

William Old, PhD

Assistant Professor, Molecular, Cellular, and Developmental Biology

DYRK1A inhibitor to rescue Down syndrome phenotypes in brain organoids
Potter, Huntington

Huntington Potter, PhD

Kurt N. and Edith von Kaulla Memorial Professor of Neurology

Aneuploidy and amyloid in Down syndrome Alzheimer's disease​

Shaikh, Tamim

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

Burchill, Matthew

Matthew Burchill, PhD

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

Regulatory T cells and autoimmune disorders in Down syndrome

Espinosa, Joaquin

Joaquin Espinosa, PhD

Professor, Pharmacology

Understanding Down syndrome as an interferonopathy

Hsieh, Elena

Elena Hsieh, MD

Assistant Professor, Immunology and Microbiology

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

James, Stephanie

Stephanie James, PhD

Assistant Professor, Pharmacy (Regis University)

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

Edward Janoff, MD

Professor, Medicine – Infectious Disease

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

Lenz, Laurel

Laurel Lenz, PhD

Professor, Immunology and Microbiology 

Mechanisms responsible for increased type I IFN responses in trisomy 21

OConnor, Brian

Brian O’Connor, PhD

Associate Professor, Immunology and Microbiology

Chromatin regulation of adaptive immune dysfunction in Down syndrome

Reinhardt, Lee

Richard Lee Reinhardt, PhD

Assistant Professor, Immunology and Microbiology

Mechanisms of reduced allergic susceptibility in Down syndrome

Shen, Jingshi

Jingshi Shen, PhD

Associate Professor, Molecular, Cellular, and Developmental Biology

Dysregulation of cytotoxic lymphocyte-mediated cell killing in trisomy 21

Spritz, Richard

Richard Spritz, MD 

Professor, Human Medical Genetics

Genetic analysis of autoimmunity in Down syndrome​

Sullivan, Kelly

Kelly Sullivan, PhD

Assistant Professor, Pediatrics

Defining the impact of the interferon response on Down syndrome phenotypes

Tamburini, Beth

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

DeGregori, James

James DeGregori, P​hD

Professor, Biochemistry and Molecular Genetics

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

Hesselberth, Jay

Jay ​Hesselberth, PhD

Associate Professor, Biochemistry and Molecular Genetics

Causes and consequences of altered DNA repair in Down syndrome

Maloney, Kelly

Kelly ​Maloney, MD

Professor of Pediatrics – Heme/Onc and Bone Marrow Transplantation

Novel non-toxic therapeutic strategies for leukemia in Down syndrome

Pacenta, Holly

Holly Pacenta, MD

Physician, Pediatrics – Heme/Onc, UT Southwestern Medical Center

Novel non-toxic therapeutic strategies for leukemia in Down syndrome
Pietras, Eric

Eric Pietras, PhD

Assistant Professor, Medicine – Hematology 

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

Verneris, Michael

Michael Verneris, MD

Professor of Pediatrics – Heme/Onc and Bone Marrow Transplantation

The impact of trisomy 21 on Natural Killer cell function

Yi, Rui

Rui Yi, PhD

Assistant Professor, Molecular, Cellular, and Developmental Biology

Mechanisms of miR-155 mediated leukemogenesis in trisomy 21

Developmental and organ-specific impacts of trisomy 21

Benam, Kambez

Kambez Benam, PhD

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

Lung-on-a-chip to model Down syndrome airway pathophysiology​

Bilousova, Anya

Ganna Bilousova, PhD

Assistant Professor, Dermatology

Exploring endothelial progenitor cell defects in Down syndrome​​​

Galambos, Csaba

Csaba ​Galambos, MD, PhD

Associate Professor, Pathology 

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

Jacot, Jeffrey

Jeffrey Jacot, PhD

Associate Professor, Bioengineering

Mechanotransduction pathways during heart development in Down syndrome

Klymkowsky, Michael

Mike Klymklowsky, PhD

Professor, Molecular, Cellular, and Developmental Biology

Inductive signaling in iPSC-derived trisomy 21 cerebral organoids

Mueller, Nick

Niklaus Mueller, PhD

Assistant Research Professor, Ophthalmology

Malformation of the ocular lens in Down syndrome visual impairment​

Petrash, Mark

Mark Petrash, PhD

Research Professor and Vice Chair of Research, Ophthalmology

Cellular and molecular basis of vision defects in Down syndrome​

Song, Kunhua

Kunhua Song, PhD

Assistant Professor, Medicine – Cardiology

Cardiomyocytes and congenital heart defects in Down syndrome​

Vergara, Natalie

Maria Natalia Vergara, PhD

Assistant Professor, Ophthalmology

Retinal manifestations of Alzheimer’s disease in Down syndrome retinal organoids
Yeager, Michael

Michael Yeager, PhD

Clinical Associate Professor, Bioengineering

Lung immune environment and pneumonia infection in Down syndrome