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?

Consent form for Adult Participants

Consent form for Child Participants

Assent form for Participants aged 13 to 17

Consent for for Fetal Sample



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 graduate student

A word from a genetic counselor


Website developed by Taylor Laut
Logo design and website maintenance by Sarah Stewart
Social media, blog posts and educational videos developed and posted by Maira Pires
Brochure created by Nathan Hassel

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Did you know…??

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…??

Meet the CARE Study Team

The CARE Study’s team works out of Columbia University Medical Center. It is comprised of accomplished experts  in their area of study. The principal investigator of the CARE Study is Dr. Wendy Chung who is a clinical geneticist. The co-investigators are Dr. William Middlesworth, the director a pediatric surgery, Dr. Julie Khlevner and Dr. Joseph Picoraro, who are … Continue reading Meet the CARE Study Team

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