Boston Children’s Hospital Is Now the First In-Clinic Recruitment Site for Single Ventricle SOURCE Genomics Study
May 5, 2025
With the launch of its first in-clinic recruitment site at Boston Children’s Hospital’s Benderson Heart Center, Single Ventricle SOURCE has achieved a major milestone. This exciting advancement propels the study closer to its goal of uncovering the genetic causes of single ventricle heart disease — accelerating scientific discovery and paving the way for improved outcomes for people with single ventricle heart defects.
Spearheaded by Additional Ventures, SOURCE is the largest known whole genome sequencing initiative dedicated to individuals with single ventricle heart defects and their families. With an ambitious goal of enrolling 5,000 patients and 5,000 immediate biological family members, the study is poised to lay critical groundwork for breakthrough treatments and, ultimately, cures.
“SOURCE represents a transformative step forward in unraveling the genetic architecture of single ventricle heart disease,” said Rahul Rathod, MD, MBA, Director of the Single Ventricle Program and Fontan Clinic at Boston Children’s Hospital. “By focusing on whole genome sequencing in this vulnerable population, we have the opportunity not only to deepen our understanding, but also to lay the groundwork for future therapies that are more precise and personalized.”
Families visiting Boston Children’s Hospital will now be able to learn about and enroll in the study directly through the hospital’s single ventricle clinic, expanding access to participation and simplifying the enrollment process for families.
“Launching in-clinic recruitment at one of the nation’s premier pediatric cardiology centers reflects our commitment to making SOURCE as accessible and impactful as possible,” said Diane Pickles, Additional Ventures’ Program Director for SOURCE. “This collaboration with Boston Children’s Hospital underscores the importance of clinical partnerships in fueling the genomic research needed to revolutionize treatment and care for single ventricle patients.”
While online enrollment will remain available for single ventricle patients and families, the addition of in-clinic enrollment will aid us in growing the dataset and fueling as much research as possible, as quickly as possible. We look forward to expanding to more in-clinic sites in the near future.
The SOURCE study is open to individuals with a diagnosis of single ventricle heart disease — at all ages and stages, including those who have undergone the Fontan procedure — and their biological parents and siblings.