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Thursday, November 5 2020

Dr. Vincent Ferretti to help create a world-class platform to support Down syndrome research

The DAPI project obtains substantial funding from National Institutes of Health

MONTREAL, November 5, 2020 – Dr. Vincent Ferretti will receive a portion of a major grant from the National Institutes of Health (NIH), one of the largest American funders of medical and biomedical research, for the DAPI project which consists of creating a portal and a coordination centre for data for the INCLUDE project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). The INCLUDE Project is a trans-NIH initiative launched in 2018 to support research into conditions that affect individuals with Down syndrome and the general population.

The mission of the DAPI (Data Management and Portal for INCLUDE) Project is to create a world-class platform for data sharing, data access, and integrative analysis in Down syndrome. The platform will empower scientists, physicians, and the community with tools to elicit evidence-based action in the laboratory, clinic, classroom, government, and society at-large. The DAPI Project serves first and foremost people with Down syndrome but will also elevate our understanding of human biology across diverse scientific disciplines.

As part of this project, Dr. Ferretti will work with Dr. Adam Resnick, Director of the Center for Data Driven Discovery for Biomedicine at Children’s Hospital of Philadelphia, in the Data Portal Core (DPC). The goal of the DPC is to develop the very first public web platform for sharing and analyzing data for the Down syndrome community. It will accelerate discoveries on the etiology and biological pathways underlying the increased risk for a myriad of comorbidities in this population. Dr. Ferretti will led the CHU Sainte-Justine team in developing the user interface for the DPC.

Vincent Ferretti is an expert in the development of bioinformatics genome analysis methods and software aimed at identifying and characterizing the genetic variations responsible for disease. He has participated in many major international genomics projects. He notably led the infrastructure development of the International Cancer Genome Consortium (ICGC), the NCI's Genomic Data Commons (GDC), and the Cancer Genome Collaboratory. He currently leads the development of the NIH’s Gabriella Miller Kids First Data Resource Portal. Before joining the CHU Sainte-Justine Research Centre, he was the principal investigator and director of computational genomics at the Ontario Institute for Cancer Research (OICR) in Toronto and co-director of the Maelstrom-Research program in epidemiology at the Research Institute of the McGill University Health Centre (RI-MUHC).

The DAPI project is organized into two others specialized cores, namely:

  • The Data Management Core, led by Dr. Justin Guinney, Vice President of Computational Oncology at Sage Bionetworks, oversees protocols for data collection, governance, harmonization, processing, and sharing.
  • The Administrative and Outreach Core, led by Dr. Joaquin Espinosa, Executive Director of the Linda Crnic Institute for Down Syndrome, manages outreach and education, stakeholder engagement, and project administration.

Over six million individuals with Down syndrome alive today have an increased risk of developing a wide range of medical conditions, such as certain autoimmune disorders and Alzheimer’s disease. However, they are protected from some of the largest killers of the general population, including cancer and heart disease. Therefore, a key goal of both the INCLUDE and DAPI Projects is to decode the underlying biology that alters these and many other co-occurring medical conditions.

About the CHU Sainte-Justine Research CentRE

The CHU Sainte-Justine Research Centre is a leading mother-child research institution affiliated with Université de Montréal. It brings together more than 210 research investigators, including over 110 clinician-scientists, as well as 450 graduate and postgraduate students focused on finding innovative prevention means, faster and less invasive treatments, as well as personalized approaches to medicine. The Centre is part of CHU Sainte-Justine, which is the largest mother-child centre in Canada. For more information, go to research.chusj.org.

CHU Sainte-Justine

Maude Hoffmann
Communications, CHU Sainte-Justine Research Centre

Media contact:

Florence Meney
Senior Advisor – Media Relations
CHU Sainte-Justine
Tel.: 514-755-2516

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Updated on 11/3/2020
Created on 11/3/2020
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