Established in 2008, the Crnic Institute is the first academic home for Down syndrome research in the United States. Funded through a collaboration between the University of Colorado School of Medicine, the University of Colorado Boulder, the Anna and John J. Sie Foundation and the Global Down Syndrome Foundation, the Crnic Institute is the only academic agency in the United States exclusively devoted to the study of Down syndrome.

Tom Blumenthal, PhD

Executive Director

Joaquín Espinosa, PhD

Associate Director for Science

The Anna and John J. Sie Center for Down Syndrome

 

The Sie Center provides the highest quality of comprehensive care to children with Down syndrome and support for their families. Its experts coordinate medical care, speech, physical and other therapies, and educational support in order to ensure the best possible care for each child and adolescent with Down syndrome.

FRANCIS HICKEY, MD

Clinical Director

 

The Rocky Mountain Alzheimer's Disease Center

 

The Rocky Mountain Alzheimer's Disease Center at the University of Colorado Anschutz Medical Campus is at the forefront of innovation in Alzheimer's disease research with a special focus on people with Down syndrome.

Johnathan Woodcock, Md

Clinical Director

Huntington Potter, PhD

Director

Brianne Bettcher, PHD

Assistant Professor, Neuropsychologist


RESEARCH TEAM Overview

Research Modules

Steering Committee

Chaired by Joaquín Espinosa, PhD, the steering committee oversees all aspects of the project, making important decisions such as allocation of resources and samples to specific projects. The Steering Committee includes Fran Hickey, MD, Tom Blumenthal, PhD, Huntington Potter, PhD, Barry Martin, MD and Michelle Sie Whitten, President and CEO of the Global Down Syndrome Foundation.

Cohort Management

Led by clinical research managers Angela Rachubinski, PhD and Kristy Wolter-Warmerdam, this team oversees all regulatory aspects, consent, recruitment and follow up. Other members of the team include research clinical coordinator Juana Marmolejo and lead data scientist Rani Powers.

Digital Phenotype 

Led by clinical research managers Angela Rachubinski, PhD and Kristy Wolter-Warmerdam, and lead data scientist Rani Powers, this team oversees the design and capture of clinical metadata.

Sample Processing

The sample processing team is led by Joaquín Espinosa, PhD. This team processes blood samples into various fractions so they can be safely cryopreserved before being distributed to the various data-generating teams. This team includes staff scientists Keith Smith and Donnie Evans, PhD.

Proteome Module

Led by Tom Blumenthal, PhD, this team will perform proteomics analyses of plasma fractions in collaboration with scientists at Somalogic.

Metabolome Module

Led by Kirk Hansen, PhD and Angelo D'Alessandro, PhD, this group will perform metabolomics analyses of red blood cells and plasma using the Metabolomics Shared Resource at the University of Colorado Anschutz Medical Campus.

Genome Module

This team, led by Tamim Shaikh, PhD and Richard Spritz, MD, will produce GWAS data and whole genome sequences to identify genetic modulators of the various clinical effects of trisomy 21.

Epigenome and Transcriptome Module

Led by Joaquín Espinosa, PhD and Marc Muskavitch, PhD (Biogen), this team will analyze the epigenome and transcriptome of monocytes to define the impacts of trisomy 21 on gene expression control and chromatin organization in this key cell type.

Stem Cell Module

Led by Ganna Bilousova, PhD and Igor Kogut, PhD, this team will generate and characterize induced pluripotent stem cells (iPSCs), and also oversee the iPSC biobank, which will be hosted at the Charles C. Gates Center for Regenerative Medicine.

Functional Genomics Module

Led by Joaquín Espinosa, PhD, Kelly Sullivan, PhD, and Moli Joshi, PhD will produce gene-essentiality scores using CRISPR libraries in lymphoblastoid cell lines to test the hypothesis that specific gene products are differentially required in diverse genetic backgrounds with and without trisomy 21.

HIL (Hematology, Immunology and Leukemia) Module

Led by Kate Waugh, PhD, this team will be in charge of producing the bloodworks. They will use advanced technology to characterize with exquisite detail the blood obtained from participants. They will test the hypothesis that the different disease spectrum and/or specific co-morbidities are driven by specific cellular phenotypes. 

Microbiome Module

Led by Ken Krauter, PhD and Daniel Frank, PhD, this team will analyze the oral and gut microbiomes to test the hypothesis that individuals with trisomy 21 harbor a different microbiome, and that variations in the microbiome may drive, or be driven by, different co-comorbidities.

Biobank Module

Led by Angela Rachubinski, PhD, Ganna Bilousova, PhD, and Joaquín Espinosa, PhD, this team will administer the various aspects of the biobank. 

Data Management Module

Co-led by computational scientists Rani Powers, James Costello, PhD, Katerina Kechris, PhD and Nick Rafaels, this team will oversee various data storage, handling and analysis aspects, including creation of the Central Data Repository and creation of the Researcher Gateway.

Administrative Module

The administrative module led by Director of Finance and Administration Diane Lim, and Business Administration Specialist Angela Kirkpatrick will perform various administrative roles e.g. budget administration, scheduling, assistance with grant proposals.