The INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project Data Coordinating Center (DCC) recently launched the INCLUDE Data Hub, a free-to-use, one-of-a-kind online tool for sharing, collecting and analyzing data specifically about Down syndrome. The INCLUDE Data Hub provides centralized access to large-scale research resources, including a biospecimen library and clinical and multi-omics datasets, as part of the National Institutes of Health (NIH)-funded INCLUDE Project, a research effort to advance our understanding of health and quality-of-life needs of people with Down syndrome.
Managed through the INCLUDE DCC, the Data Hub is co-led by Dr. Joaquin Espinosa, Executive Director of the Linda Crnic Institute for Down Syndrome at the University of Colorado Anschutz Medical Campus, Dr. Adam Resnick, Co-Director of the Center for Data Driven Discovery in Biomedicine (D3b) at Children’s Hospital of Philadelphia and Dr. Brian O’Connor, Chief Data Officer at Sage Bionetworks. INCLUDE DCC project leaders work closely with INCLUDE Project staff at the NIH to bring together as much expertise as possible in Down syndrome and open, data-driven science. The NIH team includes staff from the National Heart, Lung, and Blood Institute (NHLBI), the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute on Aging and the NIH Office of the Director.
The Data Hub currently features data from more than 8,000 study participants and almost 30,000 biospecimens collected exclusively from people with Down syndrome. It centralizes data from multiple large, longitudinal research projects on Down syndrome, including DS-Connect®: The Down Syndrome Registry, the Gabriella Miller Kids First Pediatric Research Program and the Crnic Institute Human Trisome Project. Since its initial launch on March 21, 2022, the Data Hub has added more than 148 active users.
“The INCLUDE Data Hub opens a new frontier in Down syndrome research, in which large-scale datasets are made widely accessible to accelerate discoveries that will benefit people with Down syndrome in their lifetimes,” explains Dr. Espinosa. “Thanks to the INCLUDE Data Hub and the studies contributing to this important resource, qualified researchers have easy access to data and biospecimens that will enable discoveries to improve clinical care in Down syndrome.”
Launched in 2018, the INCLUDE Project has galvanized research in Down syndrome by investing over $183 million on more than 200 projects studying a wide variety of basic science and clinical questions related to Down syndrome. The NIH-wide effort aims to not only understand Down syndrome, but also to gather information about conditions that are common in people without the condition, such as Alzheimer’s disease, autism and heart disease. In 2020, NIH awarded $19.5 million over five years to support the INCLUDE DCC.
“Having this wealth of data opens doors for researchers to grow our knowledge of co-occurring conditions in Down syndrome across the lifespan,” said Huiqing Li, Ph.D., a program officer in the National Heart, Lung, and Blood Institute’s Division of Cardiovascular Sciences and a project scientist for the INCLUDE DCC. “As more researchers contribute to the data hub, the more we hope to accelerate discoveries about these underlying conditions.”
INCLUDE Project teams will continue to refine and expand the Data Hub to maximize access to these important and unique data. In addition, the INCLUDE DCC will share findings from research that uses INCLUDE data on the DCC website to speed the transition from research into treatments that will improve the everyday lives of people with Down syndrome.
The DCC is supported by the National Institutes of Health under grant number U2C HL156291.
(DS-Connect®: The Down Syndrome Registry is a registered trademark of the U.S. Department of Health and Human Services.)
The content of this release is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
About the Center for Data Driven Discovery in Biomedicine (D3b)
The Center for Data Driven Discovery in Biomedicine (D3b) is a translational biomedical research Center of Emphasis at the Children’s Hospital of Philadelphia Research Institute. D3b’s multi-disciplinary expertise is accelerating bench-to-bedside research on behalf of children diagnosed with cancer and other rare conditions. D3b’s seven collaborative units bring together experts in oncology and basic research, genomics, data science, bioinformatics, neurosurgery, and other research-related disciplines to discover breakthroughs for every child, every time, everywhere. To learn more about the D3b Center, visit https://d3b.center.
About the Linda Crnic Institute for Down Syndrome
The Linda Crnic Institute for Down Syndrome is the first academic research center fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation, and the University of Colorado, the Crnic Institute administers a thriving Down syndrome research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit www.crnicinstitute.org or follow us on Facebook and Twitter @CrnicInstitute.
About Sage Bionetworks
Sage Bionetworks is a nonprofit biomedical research and technology development organization that was founded in Seattle in 2009. Our focus is to develop and apply open practices to data-driven research for the advancement of human health. Our interdisciplinary team of scientists and engineers work together to provide researchers access to technology tools and scientific approaches to share data, benchmark methods, and explore collective insights, all backed by Sage’s gold-standard governance protocols and commitment to user-centered design. Sage is a 501c3 and is supported through a portfolio of competitive research grants, commercial partnerships, and philanthropic contributions. To learn more, visit https://sagebionetworks.org.
Chelsea Donohoe, Linda Crnic Institute for Down Syndrome
Bobby Moulder, Center for Data Driven Discovery in Biomedicine
Hsiao-Ching Chou, Sage Bionetworks
Method of Research
Subject of Research
Human tissue samples