A team led by Vincent Ferretti, researcher at the Centre Hospitalier Universitaire (CHU) Sainte-Justine Research Centre and professor at Université de Montréal received a subaward from a total direct cost of $2.5 million grant (USD) to study Down syndrome. This award is  part of the National Institutes of Health (NIH) funded INCLUDE Project and will design and develop a free-to-use, one-of-a-kind online platform for sharing, collecting and analyzing clinical and multi-omics datasets specifically about Down syndrome.

The development of this platform, called the INCLUDE Data Hub, is part of the multicenter INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE), which aims to develop a strategy to address critical health and quality-of-life needs for people with Down syndrome.

Generate knowledge through data

The INCLUDE Data Hub will uncover new insights into the biology of Down syndrome and its co-occurring conditions. The Data Hub’s large-scale datasets are made widely accessible to accelerate discoveries that will benefit individuals with Down syndrome in their lifetimes. The cloud-based platform features information from more than 6,000 study participants and almost 30,000 biospecimens, and centralizes data from multiple large, longitudinal research projects focused on Down syndrome. Using the INCLUDE Data Hub, it is possible to access large-scale data resources and explore custom-built cohort datasets based on participant, biospecimen, clinical, genetic and other omic data.

According to Prof. Vincent Ferretti: “Data acquisition, management, harmonization, and sharing are transforming research and healthcare, and CHU Sainte-Justine is a leader in this field in Canada. We are proud to be part of this major initiative on Down syndrome, which will be an invaluable source of information for researchers,  self-advocates and their families.” He adds: “Having this wealth of information available also makes it possible for scientists to better understand conditions that are common in people without Down syndrome, such as Alzheimer’s disease, autism and heart disease.”

CHU Sainte-Justine’s software developers and bioinformaticians worked on the design and development of the portal in close collaboration with the Center for Data Driven Discovery in Biomedicine (D³b) at Children’s Hospital of Philadelphia (CHOP) and the Linda Crnic Institute for Down Syndrome at the University of Colorado. Several other partners were involved as well.

About the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Data Coordinating Center (DCC)

Funded by the National Institutes of Health (NIH) in 2020, the INCLUDE DCC helps people more easily access data and information collected by research projects supported by the INCLUDE Project. The DCC manages the INCLUDE Data Hub, a centralized access portal for large-scale research resources and tools specifically focused on Down syndrome, that is co-led by the Linda Crnic Institute for Down Syndrome, the Center for Data Driven Discovery in Biomedicine, and Sage Bionetworks. The INCLUDE DCC will share findings from research that uses INCLUDE data to speed the transition from research into treatments that will improve the everyday lives of people with Down syndrome and their families.

Vincent Ferretti’s laboratory benefits from a start-up fund from the CHU Sainte-Justine Foundation.