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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 […]
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 […]
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 […]
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 […]
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