Pediatric Genomics Discovery Program

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Background

All parents want their children to be happy and healthy. When a child faces medical challenges with no clear cause, it is understandable to feel frustrated and anxious. At the Pediatric Genomics Discovery Program (PGDP), we work with families to understand the genetic basis of a child’s health problems. One of those frequently encountered health problems is Congenital Hydrocephalus. PGDP is primarily focused on identifying a possible genetic cause of this medical condition, helping families understand its implications for their child’s health, and providing guidance for the future.

Why is this research being done?

Making a clear diagnosis of congenital hydrocephalus can be a challenge. Though great strides have been made in human genomics, much remains to be discovered. What makes PGDP unique is our ability to bring together the collaborative expertise of doctors and scientific researchers. Not only do we diagnose known genetic diseases, but we are also highly focused on identifying new, previously unknown genetic conditions that lead to congenital hydrocephalus.

Study Participants

Who is eligible to participate in this study?

This study is for families affected by congenital hydrocephalus.

Study Components

There is no cost to the patient/family for participating in the study. There is also no study travel necessary. All participation is completely voluntary. The affected child and both biological parents will need to provide us with saliva samples in the provided saliva collection tubes and complete the consent form. Saliva collection generally takes less than 10 minutes.

Sample collection tubes and consent forms will be mailed to your home via FedEx, along with a pre-paid FedEx return envelope to the PGDP at the Yale School of Medicine. Once the samples arrive in the lab, we will extract DNA and perform whole-exome sequencing. Our team will then do the analysis, focusing on the potential genetic cause of the medical problem facing your family member.

To help identify the cause of the condition in your family, it is highly encouraged that both biological parents and any other affected siblings participate. Study participants will be informed of their sequencing results by the PGDP team. Participant information will remain strictly confidential, and no part of this research study will be tied to any person’s identifying information. We can arrange to have any definitive genetic diagnosis confirmed in a clinical lab, so it will be part of your medical record if you so choose. At the end of the analysis, if you prefer, we will meet with you and your medical provider to return the results. Even if there is no diagnosis, we will share the details of our work.