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).
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 […]
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.
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 […]
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 […]
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.
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 […]
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.
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.
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.