Biomedical Research / Building Foundational Resources
Project Singular
There are far too many questions surrounding single ventricle heart defects and not enough answers. Researchers and clinicians need a clear, fundamental understanding of what causes and complicates single ventricle to be able to prevent and treat it—and they’re currently operating without a full picture of the disease.
Project Singular is a research study to identify the underlying genetic elements that contribute to the development of the disease and related outcomes.
About the Study
Project Singular will collect saliva samples from 5,000+ single ventricle patients and their immediate families to perform whole-genome sequencing, creating the world’s largest genetic repository of single ventricle patients.
Study Objectives
- Develop a comprehensive genetics dataset to identify and understand the genetic causes of single ventricle heart defects and related sequelae
- Establish standardized protocols for acquisition, transfer, and analysis of genetic samples
- Leverage de-identified genetics and health records to identify new clinical, imaging, and biological markers
Our Data Philosophy
We don’t know where the greatest discoveries will be made — so we aim to be as open as possible and strive for true democratization of data, while protecting our participants’ privacy at all costs. Researcher access to phenotypic and anatomic data will be intentionally inclusive and may range from basic science to single ventricle-specific investigation.
Project Singular Scientific Advisors
Benoit Bruneau, PhD
Director and Senior Investigator, Gladstone Institutes
Professor, Department of Pediatrics, University of California San Francisco
Jesse Engreitz, PhD
Assistant Professor, Department of Genetics and Children’s Heart Center Basic Science and Engineering (BASE) Initiative, Stanford University
Nadine Kasparian, PhD
Director, Cincinnati Children’s Center for Heart Disease and Mental Health
Angela Lorts, MD
Co-Founder and Co-Director of ACTION
Professor, Pediatrics, University of Cincinnati College of Medicine
Kim McBride, MD
Investigator, Center for Cardiovascular Research at Nationwide Children’s Hospital; Chief, Division of Genetic and Genomic Medicine, and Associate Professor in the Department of Pediatrics at The Ohio State University College of Medicine
Sasha Opotowsky, MD
Director, Adult Congenital Heart Disease Program Professor, University of Cincinnati Department of Pediatrics
Rahul Rathod, MD, MBA
Associate Cardiologist-in-Chief at Boston Children’s Hospital
Associate Professor at Harvard Medical School
Director of the Single Ventricle Program and the Fontan Clinic at Boston Clinic at Boston Children’s Hospital
Kurt Schumacher, MD
Co-Founder and Co-Director of ACTION
Professor, Pediatrics, University of Cincinnati College of Medicine
In Partnership With
