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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

Findings point to the possibility of treating and preventing birth defects before birth 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 […]

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

RCIGM Announces Research Collaboration with Takeda to Advance the Development of Novel Rare Genetic Disease Therapies

A new research collaboration between Rady Children’s Institute for Genomic Medicine (RCIGM) and Takeda Pharmaceutical Company Limited (“Takeda”) aims to accelerate the discovery and development of new treatments for rare childhood-onset diseases by analyzing the natural progression of selected genetic disorders from genome-phenome datasets.

July 15, 2021

Pacific Biosciences and RCIGM Announce its First Collaboration for Whole Genome Sequencing Research

HiFi Sequencing will be used on a cohort of rare disease cases with the aim to identify numerous variants, both small and structural, that are not readily detectable by short-read sequencing Pacific Biosciences of California, Inc. (Nasdaq: PACB)(“Pacific Biosciences” or “PacBio”), a leading provider of high-quality, long-read sequencing platforms, and Rady Children’s Institute for Genomic […]

June 23, 2021

Rady Children’s Hospital Study Shows Rapid WGS for Critically Ill Babies Leads to Better Health Outcomes and Lower Medical Costs

Results from California’s Project Baby Bear The evidence is in—a state-funded Rapid Precision Medicine program led by Rady Children’s Hospital-San Diego yielded life-changing outcomes for critically ill infants at five California hospitals while significantly reducing health care costs.

June 4, 2021

From 13 Years to 13 Hours: Rady Children’s Institute for Genomic Medicine Demonstrates Fastest Time to Life-Changing Diagnosis for Infants with Rare Disease

It took an international research effort 13 years to complete the first sequence of the human genome – the code of life. Now, Rady Children’s Institute for Genomic Medicine (RCIGM), in collaboration with Illumina, Inc. and Alexion Pharmaceuticals, Inc., is refining an ultra-rapid sequencing process to diagnose rare disease in 13.5 hours.

June 2, 2021

Rady Children’s Institute for Genomic Medicine Receives New York State Approval for Clinical Sequencing

San Diego – February 18, 2021 – Rady Children’s Institute for Genomic Medicine (RCIGM) is now licensed by New York State to perform clinical molecular testing making the Institute one of the few laboratories nationwide approved to perform whole exome and whole genome sequencing (WGS) on samples sent from all 50 states and the District of Columbia.

February 18, 2021

2020

Parents, Doctors Agree: Genome Sequencing as a First-Tier Diagnostic Test Benefits Critically Ill Infants

Findings of two new studies by Rady Children’s Institute for Genomic Medicine SAN DIEGO – Nov. 5, 2020— A vast majority of doctors and parents of babies in intensive care, with diseases of unknown origin, believe genomic sequencing is beneficial in managing care, according to two new papers published by Rady Children’s Institute for Genomic […]

November 5, 2020