CHOP Omics Initiative
At Children’s Hospital of Philadelphia (CHOP), we know that every child is unique, even when facing the same illness. The era of one-size-fits-all treatments is behind us, and we are leading the way in revolutionizing pediatric medicine. Our Omics & Big Data Initiative propels us forward by deepening our understanding of omics-related diseases. We're swiftly developing and incorporating cutting-edge omics-based diagnostics and therapies tailored to each child's specific needs. Our Omics Initiative leverages our robust omics expertise and infrastructure and establishes new programs to optimize our work. Discover how we’re shaping the future of personalized pediatric care.
Omics-enabled programs
We offer many programs focused on the use of genetics, genomics and other omics to better understand and improve children’s health. Learn about our omics-enabled research and clinical programs.
Research programs
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 bedside, where we can apply that research to 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 to understand how our genes affect 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 affect our health.
It’s not enough to understand a person’s genes. To help every child be as healthy as possible, we need to appreciate what else is happening in their cells. 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 the individual child.
Our goal is to provide personalized care for every child. Here’s how we’re getting there:
- 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 our hospital to make new discoveries
This “big data” resource helps our researchers find new treatments and cures for rare diseases.
Baby Eagle
Our Baby Eagle Program provides accessible genetic testing for some of the smallest and sickest babies 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 professionals:
- Diagnose a disease more quickly and precisely
- Provide more individualized treatment
- Determine if future siblings may deal with the same issues
The CHOP Rapid Targeted Analysis of the Genome for Infants (rTAG-I) test — developed in our Genomic Diagnostic Lab — allows us to 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 best use this genetic testing process and to 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 future care.
We combine clinical expertise with comprehensive genetic analysis and cutting-edge diagnostic tools to improve the diagnosis and treatment of currently undiagnosed diseases.
Omics patient stories
Find out how omics and precision medicine have helped children here at CHOP.
Researchers Identify Three Genes Associated With Neurodevelopmental Disorders
All three genes had variants affecting splicing and resulted in symptoms like developmental delays, intellectual disability, hypotonia, seizures and autism.
CHOP, Penn Researchers Develop Gene Editing Approaches for PKU Treatment
The two studies, presented at ASHG 2023, identified base editing and prime editing approaches for treating the rare newborn genetic disease.
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.