Ongoing Projects and Investigations

The Human Trisome Project team works closely with numerous investigators hailing from a wide variety of backgrounds and expertise to understand the different disease spectrum in Down syndrome. The projects below are active and ongoing investigations by our team and others using samples generated by the Human Trisome Project.


Genome and Epigenome

  • Genomic analysis of congenital heart defects and acute lymphoblastic leukemia in children with Down syndrome. Stephanie Sherman, PhD, Emory University.

  • Epigenetic control of the immune system in Down syndrome. Brian O’Connor, PhD, National Jewish Health.

  • Epigenetic biomarkers of Alzheimer’s disease in Down syndrome. Joaquin Espinosa, PhD, University of Colorado Anschutz and Chao Sun, PhD, Biogen.

Transcriptome and Proteome

  • Gene expression changes caused by trisomy 21. Kelly Sullivan, PhD, University of Colorado Anschutz.

  • Alterations of protein synthesis in Down syndrome. Stephanie Moon, PhD, and Roy Parker, PhD, University of Colorado Boulder.

Metabolome and Microbiome

  • Metabolic changes caused by trisomy 21. Angelo D’Alessandro, PhD, University of Colorado Anschutz.

  • Kynurenine metabolism in Down syndrome. Rani Powers and James Costello, PhD, University of Colorado Anschutz.

  • Oral microbiome in Down syndrome. Keith Smith, University of Colorado Anschutz, and Ken Krauter, PhD, University of Colorado Boulder.

  • Oral candidiasis in Down syndrome. Michail Lionakis, MD, National Institute of Allergy and Infectious Disease.

Immune Mapping and Function

  • High resolution mapping of the immune system in Down syndrome. Kate Waugh, PhD, University of Colorado Anschutz and Elena Hsieh, MD, Children’s Hospital Colorado.

  • Investigation of T regulatory cells in Down syndrome. Paula Araya and Mariana Maccioni, PhD, National University of Cordoba, Argentina.

  • Investigations of cytotoxic immune cells in Down syndrome. Jingshi Shen, PhD, University of Colorado Boulder.

  • Impact of trisomy 21-driven immune dysregulation on lung function and immunity. Michael Yeager, PhD, University of Colorado Anschutz.

  • Functional studies of B cells in Down syndrome. Edward Janoff, MD, University of Colorado Hospital and Stephanie James, PhD, Regis University.

  • Mechanisms of reduced allergy susceptibility in Down syndrome. Lee Reinhardt, PhD, National Jewish Health.

Cancer and Leukemia

  • Causes and consequences of altered DNA repair in Down syndrome. James DeGregori, PhD, and Jay Hesselberth, PhD, University of Colorado Anschutz.

  • B cell leukemia in Down syndrome. Holly Pacenta, MD, Children’s Medical Center Dallas.

  • Mechanisms of tumor suppression by trisomy 21. Joaquin Espinosa, PhD, University of Colorado Anschutz.

Stem Cell Research

  • Mechanisms for cell signaling in the control of cardiomyogenesis in trisomy 21. Kunhua Song, PhD, University of Colorado Anschutz.

  • Endothelial progenitor cell defects in Down syndrome. Ganna Bilousova, PhD, University of Colorado Anschutz.