The following update has been provided by Becca Hernan, MS, LCGC, Sr Genetic Counselor at Chung Lab, Boston Children’s Hospital.
For more information on the study, please visit our dedicated page.
Since 2015, the CARE Study (Congenital Anomalies Research Exploration) has been dedicated to understanding the genetics of OA/TOF (oesophageal atresia/ tracheoesophageal fistula).
Over the past decade, we’ve made remarkable progress — thanks to the incredible families who have partnered with us in this research journey.
Over 800 families (nearly 2,000 individuals) have enrolled.
We’ve identified many new genes associated with OA/TOF.
We’ve made important connections between these genetic findings and clinical features and outcomes, helping to guide and improve patient care.
The CARE Study is still going strong and continues to enroll new families with OA/TOF online and from our partner hospitals and from around the world.
Enrollment is quick, easy, and can be completed remotely. Participants may receive the results of research study genetic testing if a genetic cause of OA/TOF is identified.
There is strength in numbers, and every family’s participation brings us closer to understanding OA/TOF and improving care over the life course and for future generations.
Exciting News
In July 2023, Dr. Wendy Chung was appointed Chief of Pediatrics at Boston Children’s Hospital! Boston Children’s Hospital is home to a world-renowned OA/TOF treatment and follow-up center, and we are thrilled to collaborate closely with their exceptional team to improve the care of people with OA/TOF.
Dr. Chung and her team are deeply committed to the CARE Study and to advancing our shared mission to better understand the genetics of OA/TOF and improve outcomes for families everywhere.
To learn more or to enroll in the CARE Study, please contact us: CAREstudy@childrens.harvard.edu



