IMGC Research

IMGC Research

Hi and welcome to the Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia. We are a group of researchers and clinicians and we would like to thank you for taking the time to learn more about our research efforts.

Many childhood disorders are genetic. Genetic testing such as Exome Sequencing helps geneticists like us identify possible disease causes, explain patient symptoms and potentially alter their medical care. Yet, there is a gap in our knowledge. We have approximately 20,000 genes in our body and we understand only 25% of them. That's about 6,000 genes.

Also pediatric genetic conditions usually are so rare that it could take many years for an individual researcher to collect and analyze enough samples to pinpoint gene abnormalities causing health problems. Through the pediatric genome sequencing project, we aim to reduce some of these research barriers by providing a common platform for researchers within and outside of CHOP to collaborate and accelerate genomic discovery.

With your help, we are creating a biorepository to help researchers learn how genes are related to health and disease, especially rare pediatric disorders.

We are enrolling children, and family members with the suspected genetic condition, however we are not focusing on a particular disease or gene of interest. By participating, you might help us learn more about a condition’s genetic cause, increase our knowledge of genes and clinical outcomes for other children.

Interested participants will be asked to: sign a consent form for a one time visit and phone call, provide one to two tablespoons of blood, get permission for the team to review your health records and test data, allow us to re-contact you about potential future research, agree to future linking of your coded data with your full medical record, if permitted by oversight committees.

Once we received the samples and data, we will remove all names and identifiers and store the coded samples in the CHOP bio bank for future use. This will streamline the research process by providing CHOP researchers and our partner institutions with easier access to a robust resource to share data.

And researchers who use these samples, may find results they wish to return to you but this is not guaranteed. The risk of participating might be: possible pain, bleeding or bruising from blood draws, potential risk to privacy, confidentiality, and genetic testing.

If there are any research opportunities with additional necessary permissions, our clinical research team will get in touch with you. Also, if you opt in to receive research results, we will contact you.

Please note, that you will not be paid for your participation and will not receive charges.

Thank you again for learning about the Pediatric Genomic Sequencing Project and considering to participate. Your help in this research could lead to novel discoveries or therapies benefiting children with rare disorders.