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.

Strategic Development

Amanda Hill, MBA, heads strategic development with Joaquín Espinosa, PhD to facilitate strategic partnerships and collaborations to further basic and translational research, develop intellectual property and identify potential commercial partnerships, and grow the Linda Crnic Institute within the University framework.

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, Eric Butcher, and lead data scientist Rani Powers.

Digital Phenotype 

Led by clinical research managers Angela Rachubinski, PhD and Kristy Wolter-Warmerdam, clinical research coordinators Eric Butcher and Juana Marmolejo 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, Ross Granrath, Paula Araya 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, Kelly Sullivan, PhD, 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.