Gastrointestinal (GI) defects are the third most common type of birth defect seen in babies. Despite this, not much is known about the genes related to GI defects.

Through the Congenital Anomalies Research Exploration (CARE) study, we aim to collect information from families with GI defects to better understand their genetic causes and to aid in future diagnosis, treatment and prevention.

Phase 1 of the study focuses on GI defects, specifically esophageal atresia and tracheoesophageal fistula. Get enrolled in this free study today!


Additional Resources:

Check out our CARE Study Brochure here:

CARE Study Brochure


Already consented into the study? Lost your paperwork or want to look it over again?

CARE Parental consent for child

CARE Adult consent

CARE Assent form for 13-17 yrs

CARE Fetal consent




This study can have tremendous impact in the field of birth defects. It is with care and compassion that we offer families that are affected with GI issues with the opportunity to know more about the genetic underpinnings of birth defects so families in the future can have more of an answer than today

Maira Pires, genetic counselor


Image result for Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)

Project #: 1P01HD093363-01

Project Start: 2017-08-15        Project End: 2022-05-31


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This research study is completely free to participate and it involves obtaining either blood or saliva sample from the affected individual and (ideally) both of their biological parents to do a type of genetic testing called whole exome sequencing.   This comprehensive and state-of-the-art test looks for genetic changes that could explain the reason for the … Continue reading Did you know…??

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