Research & Discovery

Unlocking the Complexities of Genetic Disease

We are accelerating the pace of discovery and building the evidence base to advance delivery of Rapid Precision Medicine™ as the standard-of-care for children with genetic diseases.
We are optimizing a Rapid Precision Medicine system to provide clinicians with a phenotype-based molecular diagnosis and enable disease-specific intervention.
Our research is focused on revealing the molecular causes of rare, genetic diseases of unknown etiology to support clinical decision-making and eliminate the diagnostic odyssey.
In multiple, grant-funded studies, we are investigating the genetic interactions responsible for rare diseases, paving the way for developing targeted therapies.
Infant mortality is a key indicator of a nation’s health. We seek to better understand which infant deaths are linked to genetic disease.
We seek to understand the genetic basis of diseases such as epilepsy, autism and brain disorders to benefit the children and families affected by brain disorders.
Brain tumors are the leading cause of cancer death in children. Our goal is to develop personalized therapies that are more effective & less toxic approaches to treatment.
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Rylee
Rylee

For rare genetic conditions for which no treatment exists, our work is important as the first step in guiding research directed at targeted therapies.

— Joseph Gleeson, MD

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Rylee
Rylee

With a better understanding of how genes work in rare disease, we can help clinicians more effectively treat patients and potentially improve outcomes.

— Matthew Bainbridge, PhD

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Research Projects

Research Projects

We engage in collaborative research aimed at building the global genomics knowledge base and advancing the implementation of Rapid Precision Medicine to improve delivery of personalized pediatric healthcare.
 
Our portfolio includes investigations involving cardiomyopathy, familial glioma, autism, childhood digestive diseases, liver disease, neural tube defects, pediatric brain tumors, neurological movement disorders as well as development of therapies targeted for rare disease.

Strategic Collaborations

Together with our research partners, we are building the evidence base to demonstrate the clinical and economic value of genomic medicine for the management of rare genetic diseases in pediatric patients. Our leading collaborative efforts include:
  • VON Rady Children’s Biorepository research protocol allows eligible Level III and Level IV NICUs to access free rWGS as first-line diagnostic testing for critically-ill infants hospitalized with diseases of unknown etiology. 
  • Genomic Medicine for Ill Neonates and Infants (GEMINI) is a multi-site clinical trial funded by NIH and led by Tufts Medical Center. Our role is focused on performing rWGS® in infants in five NICUs to compare the efficacy and clinical utility of rWGS with multi-gene panel testing. [Link to GEMINI info on Research Program Page] 
Group shot of Dr. Friedman with Rylee's familiy

Precision Medicine Clinic

The physicians and scientists of the Precision Medicine Clinic at Rady Children’s Hospital-San Diego help patient families navigate the diagnostic and therapeutic odysseys for children with rare genetic disorders by using deep phenotyping and cutting-edge diagnostics, including whole genome sequencing.

Questions?

If you are interested in collaboration opportunities
or have questions about our studies, contact:
Charlotte Hobbs, MD
VP of Research & Clinical Management
chobbs@rchsd.org