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The CARE Study (Congenital Anomalies Research Exploration)

CARE study

Would you like to contribute to a research project into the cause of TOF/OA?

Columbia University Medical Centre in New York are looking for more participants for a new research study that will examine the genetic causes of TOF/OA.

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.

As the annual grant for this important study is contingent upon obtaining 200 new families a year, we would be very grateful if you could please participate if you haven’t already.

We are assured that 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 OA/TOF 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 OA/TOF. This research study is free to participate and involves obtaining either blood or saliva sample from your TOF/OA 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 OA/TOF in your family.

In the first instance 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.

You can read more about the Medical Centre on their website –

If you have any questions please contact Priyanka Ahimaz

Priyanka Ahimaz, CGC, Senior Genetic Counsellor/Clinical Research Coordinator, Columbia University Medical Center, New York.


The latest updates to this project will be shown here as we get them.


The latest updates to this project will be shown here as we get them.

Dr Wendy Chung
Dr Wendy Chung, Principal Investigator