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.

March 16, 2023

RPM for NICU and PICUrWGS

Artificial Intelligence in the Genetic Diagnosis of Rare Disease

March 1, 2023

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

February 14, 2023

Newborn ScreeningRPM for NICU and PICUrWGS

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

Slide

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

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.

Research Programs

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]

Sanford Children’s Genomic Medicine Consortium is a group of 10 children’s hospitals committed to improving children’s health by integrating genomic medicine into pediatric care. RCIGM is a founding member.

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.

Learn More

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

Research & Discovery

Research

Unlocking the Complexities of Genetic Disease

Rapid Precision Medicine™

Rare Disease

Gene Discovery

Infant Mortality

Neurogenomics

Neuro-Oncology

Scientific Publications

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

March 16, 2023

Artificial Intelligence in the Genetic Diagnosis of Rare Disease

March 1, 2023

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

February 14, 2023

View All Publications

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

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

Research Projects

Strategic Collaborations

Precision Medicine Clinic

Questions?

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