Home

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

Funding

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

One of many amazing success stories from top GI surgeons and co-investigators of the CARE study Dr. William Middlesworth and Dr. Julie Khlevner

June 28, 2017June 28, 2017 by columbiacarestudy

http://www.nydailynews.com/new-york/new-york-presbyterian-helps-girl-rare-esophageal-condition-article-1.3280935

Why enroll in this study?

April 19, 2017April 19, 2017 by columbiacarestudy

Even though GI birth defects are relatively common, what is missing is our more thorough knowledge of what genes may be contributing to these defects. So we don’t know much about what they are but knowing this information can be really useful. This study is addressing this issue – if interested, let our certified genetic … Continue reading Why enroll in this study?

Did you know…??

April 19, 2017 by columbiacarestudy

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…??

Whole Exome Sequencing. What is it?

January 25, 2017 by columbiacarestudy

When consenting to be enrolled in the CARE Study, your sample will undergo whole exome sequencing. But what is that? During the consent process, there will be a lot of information given to you. It’s okay if you don’t remember everything! Genetic testing techniques can be hard to wrap your head around. Below is a … Continue reading Whole Exome Sequencing. What is it?

Funding

Recent Posts