The CARE study

The CARE study CARE is a research study that is set up to learn the underlying genetic causes of birth defects. Funding: NIH Project #: 1P01HD093363-01

2-3% percent of all children are born with a birth defect and many of them require surgery after birth, long hospital stays and sometimes, regular lifelong care. While there have been advances in genetic technology in the ability to identify the genetic causes of some birth defects, the underlying causes of most birth defects remains still remain unknown. With a new and comprehensive method of gen

etic testing called whole exome/genome sequencing, we now have the ability to analyze all of a person’s genetic information to help target and identify a genetic diagnosis. There have been several previous studies which have had success with using whole exome and whole genome sequencing to quickly and effectively identify genetic causes of birth defects like heart defects. One of the reasons for identifying underlying genetic causes of birth defects is to help inform families about reproductive and recurrence risks. We are enrolling children with various birth defects including gastrointestinal defects (eg: gastroschisis, omphalocele, imperforate anus etc.), neural tube defects and craniofacial defects. To enroll in the study, we will collect a saliva/blood sample from a child affected with a birth defect and both biological parents as well. We will also collect some details on the child's medical history. The purpose of this is to use the information gathered to correlate the findings with the natural history of the birth defect. Our hope is that by learning more about these correlations, we will be able to help families be better prepared and get a clearer sense of what their child's medical care will entail when they are diagnosed with a birth defect.

08/09/2021
Research should help everyone. To make sure it does, we need to include people from many different backgrounds. To learn...
06/09/2021

Research should help everyone. To make sure it does, we need to include people from many different backgrounds. To learn more about the need for diversity in genetic research, check out this link, https://bit.ly/3poSYGw

Say “Hi” to Phoebe! Here’s why her family is a part of CARE for Kids
05/24/2021

Say “Hi” to Phoebe! Here’s why her family is a part of CARE for Kids

05/06/2021

Shout out to all of our CARE for Kids Mom's--wishing you a Happy Mother's Day

04/23/2021

This week, we celebrate Earth Day (April 22nd) and DNA Day (April 25th)! Did you know......

What makes CARE for Kids unique?
04/09/2021

What makes CARE for Kids unique?

Say “Hi” to Haytham! Here’s why his family is a part of CARE for Kids
03/11/2021

Say “Hi” to Haytham! Here’s why his family is a part of CARE for Kids

Rare Disease Day is tomorrow. Meet the team that CAREs for Rare
02/27/2021

Rare Disease Day is tomorrow. Meet the team that CAREs for Rare

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