Now Enrolling Participants - Genetic Research Study
In February 2025 we kicked off a Genetic Research Study with Dr. Wendy Chung. This study is made possible by a $50,000 directed gift by NEHI Research Foundation to Boston Children's Hospital.
Learn more information, hear directly from the researchers and find links to join the study below.
The more participants, the higher our odds of identifying potential genetic mutations that may be related to NEHI.
Research Study Title: Genetics of Congenital Disorders
What is the purpose of the study?
The purpose of this study is to gain a better understanding of genetic variants that are suspected of causing NEHI. Our efforts will ultimately aid in the diagnosis, prevention, or treatment of NEHI.
Who can participate?
Anyone with a personal or family history of NEHI is eligible to participate.
Where is the study being conducted?
This study is being conducted at Boston Children's Hospital.
What do I have to do if I’m in the study?
If you choose to enroll in the study, we will collect a saliva sample and your medical history and family history via an online survey. We will also review your medical records. We will complete extensive genetic testing (called whole exome or genome sequencing) and if a genetic cause for NEHI is found, you will receive a clinical lab report.
What are the benefits of the study?
You may receive a genetic diagnosis to help you manage your condition and for family planning.
This research is being conducted by: Dr Wendy Chung, Chief of Pediatrics at Boston Children's Hospital
If you would like to participate in this study, please contact our study team: ChungGeneticResearch@childrens.harvard.edu ​
Frequently Asked Questions
Ready to join the study? Click the button below to initiate an email to the research team and get signed up. Or manually send an email to chunggeneticresearch@childrens.harvard.edu with "NEHI Genetic Study" in the subject line.