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.

As our understanding of genetic diseases grows, and the pace of therapeutic innovation accelerates, newborn screening by rapid Whole Genome Sequencing may provide a more dynamic way of expanding the number of conditions.

Infant mortality is a key indicator of a nation’s health. We seek to better understand which infant deaths are linked to genetic disease. Initial study results show that the connection between genetic disease and infant mortality is higher than previously thought.

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.

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.

August 19, 2023

Neurogenomics

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

July 30, 2023

Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype

July 30, 2023

rWGS

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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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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.

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.

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Research & Discovery

Research

Unlocking the Complexities of Genetic Disease

Newborn Genomic Sequencing

Infant Mortality

Rapid Precision Medicine™

Rare Disease

Gene Discovery

Neurogenomics

Neuro-Oncology

Scientific Publications

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

August 19, 2023

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

July 30, 2023

Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype

July 30, 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

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