CHOP Omics Initiative
At Children’s Hospital of Philadelphia, we know that two children can be diagnosed with the same disease and have different treatment needs. The typical one-size-fits-all approach is a thing of the past. We’re not just re-envisioning the future of pediatric medicine – we’re revolutionizing it.
What is “Omics?”
“Omics” is a branch of science that touches various disciplines of biology. We look at vast amounts of data to understand the genetic contributions to disease:
- what those genes are (genomics)
- how they are turned on or off (epigenomics)
- what those genes do (transcriptomics)
- how those genes talk to each other (proteomics, metabolomics)
- and how those genes can be influenced by the internal environment (microbiomics)
Omics touches everything we do at CHOP. From the research lab, where we work to uncover the underlying mechanisms of disease, to the hospital where we can apply that research and more quickly and accurately diagnose and treat disease, to the community where we can better prevent disease with targeted interventions.
Why do we need omics?
For many years, scientists have been focused on genomics and understanding how our genes impact our health. Omics takes us to the next level by looking at more than just our genes – Omics looks at other molecules and markers in our cells that impact our health.
It’s not enough just to understand a person’s genes. We need to appreciate what else is happening in a person’s cells to help every individual be as healthy as possible. This patient-centered care is called personalized or precision medicine. We want to be able to target the treatment to what will work best for each individual.
Our goal is to provide personalized care for every child. We’re getting there by:
- Gathering vast amounts of data (we call this “big data”) through the CHOP Biobank.
- Developing new cutting-edge tools to help us understand the data we generate.
- Collaborating with clinical and research experts across CHOP to make new discoveries.
About the CHOP Biobank
The CHOP Biobank is a fundamental component of our Omics Initiative, providing a “big data” resource for the CHOP research community.
With the Biobank, we’re able to collect and analyze health data from thousands of people. Samples from healthy children and from children who are dealing with ongoing medical issues help us understand disease much more precisely. And large study populations that have samples from children from different types of backgrounds are key to helping us discover disease markers for rare conditions, uncovering connections between genes, and developing new treatments.
The CHOP Biobank is a reservoir of knowledge that helps us unravel the mysteries of childhood health and disease.
About the Undiagnosed Disease Program (UDP)
The Undiagnosed Disease Program (UDP) was created to solve the most challenging medical mysteries affecting patients today. The UDP is an expansion of CHOP’s NIH-funded Undiagnosed Disease Network Site.
Our goals are to:
- Help individual patients and families living with undiagnosed diseases.
- Develop and offer better diagnostic testing for patients with rare diseases or conditions that are difficult to diagnose.
- Identify a medical home for patients to ensure they receive the best care and treatment.
We partner with the leading clinical and research experts from across CHOP to ensure we are using the most advanced testing and knowledge for diagnosis and care.
Every family who is seen in the Undiagnosed Disease Program is invited to participate in our research program, which allows us to offer testing options that are not yet routinely available for clinical care. This research is what allows our UDP team to apply the most advanced testing and continuously improve our expertise in caring for your child and other families with undiagnosed conditions.
About Baby Eagle
The Baby Eagle Program was created to provide accessible genetic testing for some of our smallest and sickest patients in the neonatal ICU, while gaining a better understanding of genome analysis.
Studies have shown that rapidly sequencing a baby’s genome can help healthcare providers:
- Diagnose a disease more quickly and precisely.
- Provide a more individualized treatment.
- Determine if future siblings may deal with the same issues.
With a single test called the CHOP Rapid Targeted Analysis of the Genome for infants (rTAG-I) developed by the CHOP Genomic Diagnostic Lab, we can analyze about 3,000 genes that we know are related to disease in newborns and early childhood. Results are rapid. Within a week, clinicians and families have answers so they can make informed decisions, quickly.
Our Baby Eagle team is currently collaborating with our world-renowned NICU on how to implement this genetic testing process and ensure that it is available to all families who need it.
Participating families can also enroll in a complementary research study focused on improving our understanding of the genome and how we can use genome data to improve clinical care in the future.
Patient Stories
Read more about how omics and precision medicine have helped these CHOP patients.
- Roberts Individualized Medical Genetics Center (IMGC) Patient Stories
- Sadie's Story: Rare Genetic Muscle Condition
- Luke's Story: New Genetic Condition Identified
- Athan's Story: Individualized Medical Genetics
- Lexi's Story: Specialized Clinical Care for Beta-Propeller Protein-Associated Neurodegeneration (BPAN)
- Cell and Gene Therapy Collaborative Patient Stories
Support Omics at CHOP
Groundbreaking programs like the Omics and Big Data Initiative are made possible by generous financial donors. We need your ongoing support to continue to advance our understanding of omics-enabled disease and revolutionize pediatric medicine.