Studies

Genetic, clinical and biospecimen data within the INCLUDE Data Hub help researchers make important discoveries faster than ever before. The following is an outline of each dataset available through the INCLUDE Data Hub. By clicking on each study, you can view basic information on the type of data collected and the major goals of the study’s research team.

A man holding a toddler with Down syndrome

Studies in the Data Hub

Crnic Institute Human Trisome Project™
The goal of the HTP is to enable advanced therapeutic approaches to enhance the quality of life and extend the lifespan of those with trisomy 21 through the study of the co-occurring conditions of Down syndrome.

https://trisome.org/

DS-Connect®: The Down Syndrome Registry
The purposes of DS-Connect: The Down Syndrome Registry are to better understand the health of people with Down syndrome and to inform eligible participants who, based on their health history, may be a match for research studies or new clinical trials.

https://dsconnect.nih.gov/

Genomic Analysis of Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome
Since a key aspect of Kids First is to help uncover connections between structural birth defects and childhood cancers, the program will partner with INCLUDE and TOPMed to advance our understanding the biological factors that may lead to both heart disease and leukemia in individuals with DS.

https://kidsfirstdrc.org

Benaroya Research Institute (BRI)
The Down syndrome registry at Benaroya Research Institute (BRI) builds on institutional expertise to collect and analyze longitudinal biological samples and concomitant clinical metadata across the lifespan of people with Down syndrome. The goal is to help advance therapeutic approaches to predict, prevent and cure co-occurring conditions of Down syndrome.

https://www.benaroyaresearch.org/our-research/biorepositories/down-syndrome

Alzheimer Biomarker Consortium - Down Syndrome (ABC-DS)
The goal of the Alzheimer Biomarker Consortium – Down Syndrome (ABC-DS) is to study a group of adults with Down syndrome over their lives to single out early biomarkers of the onset of Alzheimer's disease.

https://www.nia.nih.gov/research/abc-ds

The Epidemiology of Transient Leukemia in Newborns with Down Syndrome
Down syndrome is one of the strongest risk factors for acute myeloid leukemia in children, which is preceded by a transient leukemia driven by somatic mutations in the GATA1 gene. This study was funded by the Kids First and INCLUDE programs to generate whole-genome sequencing data from a long-standing and well-phenotyped collection of newborn blood samples from 436 individuals with DS from the Oxford Down Syndrome Cohort Study, to advance our understanding of biological factors associated with transient leukemia in DS.

https://kidsfirstdrc.org/

Dimensional, Sleep, and Genomic Analyses of Down Syndrome to Elucidate Phenotypic Variability
The present work falls under an administrative supplement to study Down syndrome (DS) within the existing grant, “Dimensional Analysis of Developmental Brain Disorders using an Online, Genome First Approach” (R01-MH107431). The study aims to build validated, quantitative measures of psychopathology for DS.

Nexus
The Nexus is a patient registry, clinical database, and biological sample bank focused on developmental disorders. Its major goal is to advance research by (i) linking human cognitive, behavioral, neurological and other clinical phenotypes to biological samples, including DNA, plasma, and lymphoblastoid cell lines, and (ii) facilitating access to appropriate patient cohorts for research purposes. The Nexus is unique among biorepositories in that it combines extensive clinical data and biosamples, and emphasizes the inclusion of quantitative cognitive and behavioral data.

https://www.cu.edu/ab-nexus

Upcoming Studies in the Data Hub