Ongoing Projects and Investigations
The Human Trisome Project team works closely with numerous investigators 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 provided by the Human Trisome Project
Heat induced perturbation study in Down syndrome.
Mary Allen, PhD, University of Colorado Boulder.
Transcriptional pausing in Down syndrome.
David Bentley, PhD, University of Colorado Anschutz.
IGF1 deficiency in Down syndrome.
Paula Araya, PhD, University of Colorado Anschutz
Effects of trisomy 21 on lung development and functions
Michael Yeager, PhD, University of Colorado Anschutz.
Organoid models of Down syndrome pathology.
Ganna Bilousova, PhD, University of Colorado Anschutz.
Impacts of trisomy 21 on trophoblast differentiation and function.
Justin Brumbaugh, PhD, University of Colorado Boulder.
Advanced computational approaches for the study of Down syndrome.
Jim Costello, PhD, University of Colorado Anschutz.
Role of microglia in Down syndrome neuropathology.
Nicole Coufal, MD, PhD, UC San Diego.
Biomarkers of neurodegeneration and neuroinflammation in Down syndrome.
Christina Coughlan, PhD, University of Colorado Anschutz.
Metabolic changes caused by trisomy 21.
Angelo D’Alessandro, PhD, University of Colorado Anschutz.
Innate-like T cells in subjects with Down syndrome.
Howard Davidson, PhD, University of Colorado Anschutz.
T cell co-inhibition signaling.
Eduardo Davila, PhD, University of Colorado Anschutz.
Clonal hematopoiesis in people with Down syndrome.
James DeGregori, PhD, University of Colorado Anschutz.
Dysregulation of gene expression control in Down syndrome.
Robin Dowell, D.Sc., University of Colorado Boulder.
Long-read RNA-sequencing to discover novel transcriptome features in Down syndrome.
Matthew Galbraith, PhD, University of Colorado Anschutz.
Functional studies of exosome cargo in. Down syndrome.
Ann-Charlotte Granholm-Bentley, DDS, PhD, University of Colorado Anschutz.
Functional heterogeneity of DNA repair among single cells with trisomy 21.
Jay Hesselberth, PhD, University of Colorado Anschutz.
iPSC models of neuronal function in Down syndrome.
Tarik Haydr, PhD, Children’s National Hospital.
Understanding the hyperactive interferon response in trisomy 21 at the single-cell level.
Elena Hsieh, PhD, University of Colorado Anschutz.
Mechanotransduction pathways during heart development in Down syndrome.
Jeffrey Jacot, PhD, University of Colorado Anschutz.
B cell dysfunction in Down syndrome.
Edward Janoff, MD, University of Colorado Anschutz.
Immune response to vaccines in adults with Down syndrome.
Stephanie James, PhD, Regis University.
Modeling the impacts of APOE status in Down syndrome Alzheimer's disease.
Noah Johnson, PhD, University of Colorado Anschutz.
Characterizing innate immune dysregulation in tonsils of individuals with Down syndrome.
Dallas Jones, PhD, University of Colorado Anschutz.
Oral microbiome analysis of the population with Down syndrome.
Ken Krauter, PhD, University of Colorado Boulder.
COVID vaccines in Down syndrome.
Ross Kedl, PhD, University of Colorado Anschutz.
Characterization of type 1 interferon in Down syndrome.
Laurel Lenz, PhD, University of Colorado Anschutz.
Lens malformations in Down syndrome.
Niklaus Mueller, PhD, University of Colorado Anschutz.
Alterations in innate immune cell function in Down syndrome
Brian Niemeyer, PhD, University of Colorado Anschutz.
CNS biomarkers in multiple sclerosis and others neurodegenerative disorders.
Kavita Nair, PhD, University of Colorado Anschutz.
Examining chromatin regulation of adaptive immune dysfunction in Down syndrome.
Brian O’Connor, PhD, National Jewish Health.
Therapeutic targets in Acute Lymphoblastic Leukemia in Down syndrome.
Holly Pacenta, MD, Children’s Medical Center Dallas.
Investigation of protein translation activity in Down syndrome.
Roy Parker, PhD, University of Colorado Boulder.
Brain organoids for the study of Down syndrome.
Huntington Potter, PhD, University of Colorado Anschutz.
Impacts of trisomy 21 on cytotoxic lymphocytes.
Jingshi Shen, PhD, University of Colorado Boulder.
Mechanisms of decreased allergic sensitivity in trisomy 21.
Lee Reinhardt, PhD, National Jewish Health.
Interferon signaling and cardiogenesis in Down syndrome.
Kunhua Song, PhD, USF Heart Institute.
Multi-omic signatures of celiac disease in Down syndrome.
Marisa Stahl, MD, University of Colorado Anschutz.
cGAS inhibition to ameliorate hyperactive interferon signaling in trisomy 21.
Kelly Sullivan, PhD, University of Colorado Anschutz.
Elucidating the pathophysiology of the skeleton in Down syndrome
Larry Suva, MD, Texas A&M University.
Effects of trisomy 21 on the development of the retina.
Natalia Vergara, PhD, University of Colorado Anschutz.
Studying the efficacy of DS CAR T cells for B-cell Acute lymphoblastic leukemia.
Michael Verneris, MD, University of Colorado Anschutz.
Microglial differentiation and response of microglial-like cells to oligomeric amylod beta.
Frances Wiseman, PhD, UK Dementia Research Institute.
Effects of trisomy 21 on Natural Killer cell function.
Elena Woods, PhD, University of Colorado Anschutz.
Endothelial cell function in Down syndrome.
Michael Yeager, PhD, University of Colorado Anschutz.
miRNA studies in Down syndrome.
Rui Yi, PhD, University of Colorado Boulder.