Research Participation Opportunities

Columbia University Medical Centre in New York are looking for participants for a new research study that will examine the genetic causes of EA/TEF

The research project is called the CARE Study (Congenital Anomalies Research Exploration) and its principal investigator is Dr Wendy Chung, who is experienced in studying the genetics of birth defects.  It’s hoped that the results might aid understanding of why TOF/OA occurs and might help improve management guidelines and treatment outcomes for affected children in the future. No secondary/additional findings are reported.  The study team consists of GI surgeons, general GI physicians and geneticists.  There is no cost to participate and families can be consented for it remotely.

The main goals are:

  1. Document the underlying genetic causes of EA/TEF and to see how the genetic information correlates with medical care, overall health and development of these children long term.  From this the research team will develop better treatment modalities for children with OA/TOF.
  2. In addition, the research team wishes to discover novel developmental and clinical genes associated with EA/TEF.

This research study is free to participate and involves obtaining either blood or saliva sample from your EA/TEF child and (ideally) both biological parents to do a type of genetic testing called whole exome sequencing.  This test looks for genetic changes that could explain the reason for the EA/TEF in your family.

 How to take part

If you are interested in participating or learning more about the study, please email Priyanka Ahimaz at

Enrolled families can be conveniently consented over the telephone, and kits posted to your home to enable you to give your sample for genetic testing.


This is the link for The Medical Centre’s Facebook page:

You can read more about the study and the team on their website:

 If you have any questions please contact coordinator Priyanka Ahimaz (email: Senior Genetic Counselor at Columbia University Medical Center, New York.