Our Work

Clinical Genome Center

The human genome is very much like the operating manual to the human body. Rapid Whole Genome Sequencing is a comprehensive test used to decode rare genetic disorders by scouring the entire genetic code for disease-causing variations or errors.

Our laboratory is licensed and certified to perform clinical grade diagnostic testing via rapid Whole Genome Sequencing. The Institute has engineered a process to compress the time needed to sequence, analyze, interpret and deliver test results in as little as three days.

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Research Focus Areas

The Institute was founded to build a research-to-bedside genomic sequencing pipeline, with the goal of making genetic screening fast, easy and routine for diagnosing and delivering precision medicine to acutely ill babies and children.

Neonatal/ Pediatric Intensive Care
Rapid Whole Genome Sequencing is used to decode rare genetic disorders in newborns & children hospitalized in intensive care who are enrolled in one of our multi-center clinical studies.
Precision Neuro-Oncology
Brain tumors are the leading cause of cancer death in children. Our goal is to develop personalized therapy for pediatric brain tumors by seeking more effective & less toxic approaches to treatment.
Precision Neuro-Genomics
Genomic sequencing is used to decipher the medical mysteries behind genetically-caused neurological disorders, with the goal of providing a diagnosis to guide targeted medical treatment.
Technology
Development
The genomic technology & bioinformatics team uses process engineering principles to develop & optimize novel information technology platforms & validate them to meet clinical regulatory requirements.

Expanding Genomic Understanding

Transforming pediatric healthcare through genomic sequencing requires more than just discovery and innovation. Training and mentoring a workforce in genomic medicine is vital to making genetic testing the standard of care. The Institute offers opportunities for researchers and clinicians to expand their genomic literacy and develop expertise in this burgeoning field.

View Our Education & Engagement Section

Publications

Institute scientists are striving to refine and accelerate genomic medicine. Their peer-reviewed scientific papers chronicle these advances.

See Our Publications