Study Shows Fabric’s GEM AI Improves Rare Disease Diagnosis
Fabric Genomics and Rady Children’s Institute for Genomic Medicine today announced the publication of a retrospective study in Genome Medicine showing that Fabric’s GEM AI algorithm helped detect more than 90% of disease-causing variants in infants with rare diseases. The study involved six leading genomic centers and hospitals, and used whole-genome and whole-exome data from previously diagnosed newborns and […]
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 […]
Researchers unravel the genetic cause of a childhood disorder and a potential way to prevent it with drugs
An international research team led by the University of California, San Diego (UCSD) has identified a genetic cause for a syndrome that has stumped clinicians for many years. And the scientists say they might be able to prevent the disease-causing mutation during pregnancy based on promising mouse studies.
Early Genome Sequencing Improves Care for Critically Ill Infants
Infants in the ICU who received whole genome sequencing (WGS) were twice as likely to get a diagnosis and a change of management than those who did not get early sequencing, according to a paper released today from a multi-center collaboration by The NICUSeq Study Group. Early Genome Sequencing Improves Care for Critically Ill Infants
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.
Previously Unexplained Birth Defects Rooted in Genetic Mutations
Disrupted Wnt signaling results in newly termed Zaki syndrome A mutation in the WLS gene causes Zaki syndrome, a newly identified disorder characterized by multiorgan birth defects such as microcephaly, foot syndactyly, and heart defects — suggesting a potential target for treatment.
Sick Infants Profiled with WGS See Better Diagnosis, More Care Changes
New data out this week have added support to a growing push for routine use of whole-genome sequencing in the diagnosis of acutely ill newborns suspected of having a genetic disorder.
Whole Genome Sequencing in Babies Proves Mettle
Changed management in substantial number of cases; but it’s still not cheap About one in five extremely ill infants lacking a clear diagnosis benefited from whole genome sequencing, researchers found in a randomized trial.
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 […]
Baby Steps
Sequencing every newborn’s genome to detect diseases faces ethical and practical obstacles, but the United Kingdom is pushing ahead with a major test. Science Magazine looks at genomic newborn screening in the UK and the US.