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2022

Study Supports Potential of Genome-to-Treatment (GTRx™) to Guide Physicians  in the Management of 500 Treatable Genetic Diseases

GTRx, a clinical decision support tool, can provide front-line clinicians with the information they need to initiate precision treatments for critically ill infants and children in intensive care Rady Children’s Institute for Genomic Medicine (RCIGM®) today announced the publication of a study in Nature Communications describing and examining the performance of Genome-to-Treatment (GTRx™), an automated, […]

July 26, 2022

Dr. Stephen Kingsmore Receives Prestigious Precision Medicine World Conference 2022 Luminary Award

Dr. Kingsmore recognized for his innovation in neonatal molecular diagnoses using rapid whole-genome sequencing Rady Children’s Institute for Genomic Medicine® (RCIGM) today announced that Stephen Kingsmore, MD, DSc, President and CEO, was presented with the Precision Medicine World Conference (PMWC) 2022 Luminary Award at this year’s conference in the Silicon Valley region of California for […]

June 29, 2022

RCIGM Launches Program to Advance Newborn Screening for Treatable Genetic Diseases

BeginNGS™ to accelerate newborn screening by rapid whole genome sequencing to help diagnose and treat genetic diseases with available therapies Rady Children’s Institute for Genomic Medicine (RCIGM®) today announced a novel program to advance and evaluate scalability of a diagnostic and precision medicine guidance tool called BeginNGS™ (pronounced “beginnings”) to screen newborns for approximately 400 genetic […]

June 14, 2022

For Neurons, Where They Begin Isn’t Necessarily Where They End

For first time, researchers track the cellular migration of developing fetal brains by backtracking genetic mutations documented in deceased adult brains The making of a human brain remains a mostly mysterious process that races from an embryonic neural tube to more than 100 billion interconnected neurons in the brain of a newborn. To achieve this […]

April 20, 2022

Lynn Perez to Join RCIGM as SVP/Executive Director

Rady Children’s Institute for Genomic Medicine is pleased to announce the selection of Lynn M.T. Perez as its new Senior Vice President/Executive Director. A highly skilled executive leader, Perez has directed clinical, research and business operations at large health care systems for more than 15 years. Most recently Vice President of the Brain Health Center […]

April 4, 2022

Sanford Children’s Genomic Medicine Consortium Sequences Genomes in Immune-Compromised Children

Ten hospitals in the Sanford Children’s Genomic Medicine Consortium are participating in genome sequencing research of patients who have primary immune deficiency diseases (PIDD) or primary immune regulatory disorders (PIRD).

January 12, 2022

2021

Benchmark Genome Study Demonstrates Accuracy of Artificial Intelligence in Rapidly Diagnosing Rare Diseases in Critically Ill Patients

 Pivotal study led by Fabric Genomics and Rady Children’s Institute for Genomic Medicine demonstrates that artificial intelligence can enable the accurate and rapid clinical diagnosis of rare diseases in critically ill newborns based on whole-genome or whole-exome analyses Fabric Genomics and Rady Children’s Institute for Genomic Medicine® today announced the publication of a retrospective study […]

October 14, 2021

Researchers Discover Unknown Childhood Genetic Condition—and its Potential Cure

Describing a previously unknown genetic condition that affects children, researchers at University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine say they also found a potential method to prevent the gene mutation by administering a drug during pregnancy.

September 29, 2021

Randomized Trial Demonstrates Whole-Genome Sequencing Leads to Improved Patient Care for Critically Ill Infants from Diverse Backgrounds

Study population mirrors diversity of US demographics and findings could reduce inequity of care in acutely ill newborns Illumina, Inc. (NASDAQ: ILMN) scientists, together with investigators from five children’s hospital across the US, have co-authored a study published today in JAMA Pediatrics reporting findings from the NICUSeq Randomized Time-Delayed Trial. Results show that use of […]

September 27, 2021

Human Sperm Mutations that can Cause Disease in Children Identified

Researchers find that one in 15 men are likely to carry mutations that could adversely affect their offspring Throughout development, life and the processes of aging, all human cells accumulate mutations, resulting in what is called mosaicism, a condition in which different cells in the same person have different DNA sequences or genetic makeup. Mosaicism […]

August 12, 2021

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