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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
We’re studying the best ways to evaluate executive function skills in young children with Down syndrome. ‘Executive function’ skills are the thinking skills we use for problem-solving and planning. Children ages 2.5 to 8 years and their families are invited to participate. The results from this project will help researchers select the best ways to measure change in executive function skills in future intervention research.
BrainPower examined if group exercise sessions, delivered remotely, increased the amount of physical activity adults with Down syndrome get each week and explored if increased physical activity improved cognitive function.
Down syndrome (DS) is the most common chromosomal abnormality in livebirths with an incidence of 1 in 700 in the US. To better understand the pathophysiology of DS, this proposal will generate and analyze sequence data on 777 pediatric DS patients from the Children's Hospital of Philadelphia (CHOP), as well as 321 mothers and 148 fathers. We anticipate that the information derived from this deeply-phenotyped cohort will allow for improved understanding of the pathophysiology and molecular mechanisms underlying DS-associated comorbidities, which may inform on new practices for treatment or innovative future therapies.
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.
Despite a higher risk of Attention Deficit Hyperactivity Disorder (ADHD) among children with Down syndrome (DS), rates of stimulant medication treatment are disproportionately low. We are conducting the first randomized clinical trial (RCT) of stimulant medication in children with DS+ADHD to provide evidence regarding the short- and long-term safety and efficacy of stimulant use in children with DS+ADHD, both with and without CHD. All children enrolled in the study will complete a comprehensive assessment battery evaluating ADHD diagnostic criteria as well as behavioral, cognitive, academic, and functional impairments.
This study will extract data from Advocate Health Midwest Electronic Health Records. The goal of the study is to enable researchers to better study the root causes of co-occurring conditions experienced by people with Down syndrome with more clinical data added to what already exists.
The proposed project addresses 2 important priorities of NHLBI: 1) Incorporation of individuals with Down syndrome into existing disease cohorts and clinical trials directed toward sleep apnea. 2) Identification of potential risk and resilience factors that make individuals with Down syndrome susceptible to transient or persistent blood disorders and congenital heart disease.
Assent (affirmative agreement to participate) is required for most children and adults with intellectual disabilities, including individuals with Down syndrome, to participate in clinical trials. This project evaluated the capacity of individuals with Down syndrome to provide assent.
This study seeks to support and enhance Down syndrome research capabilities via the DS-CONNECT registry by leveraging PCORnet, the National Patient-Centered Clinical Research Network.
The purpose of this research is to better understand how motor abilities and physical activity affect children with Down syndrome. We are specifically looking at how these skills, along with other factors, are related to health outcomes later in life.
