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
Benoit Bruneau, PhD

Director and Senior Investigator, Gladstone Institutes

Professor, Department of Pediatrics, University of California San Francisco

Jesse Engreitz, PhD
Jesse Engreitz, PhD

Assistant Professor, Department of Genetics and Children’s Heart Center Basic Science and Engineering (BASE) Initiative, Stanford University

Nadine Kasparian, PhD
Nadine Kasparian, PhD

Director, Cincinnati Children’s Center for Heart Disease and Mental Health

Angela Lorts, MD
Angela Lorts, MD

Co-Founder and Co-Director of ACTION

Professor, Pediatrics, University of Cincinnati College of Medicine

Kim McBride, MD
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
Sasha Opotowsky, MD

Director, Adult Congenital Heart Disease Program Professor, University of Cincinnati Department of Pediatrics

Rahul Rathod, MD
Rahul Rathod, MD

Pediatric Cardiologist at Boston Children’s Hospital; Associate Professor at Harvard Medical School; Director of FORCE Registry

Kurt Schumacher, MD
Kurt Schumacher, MD

Co-Founder and Co-Director of ACTION

Professor, Pediatrics, University of Cincinnati College of Medicine

Our Partners