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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 […]
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
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.
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.
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.
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.
RARECAST PODCAST: RARECAST spoke to Matthew Bainbridge, principal investigator and associate director of clinical genomics at Rady Children’s Institute for Genomic Medicine, about the institute’s collaboration with Pacific Biosciences, how long-read sequencing differs from traditional whole genome sequencing, and why this is helping to find answers for undiagnosed patients with rare genetic diseases.
San Diego nonprofit n-Lorem plans to treat patients with rare genetic diseases for free, and for life. It’s an approach some, like RCIGM CEO Stephen Kingsmore, say could revolutionize medicine — if it can be scaled.
When a child is born with symptoms so rare that they confound doctors, or an older child develops an acute medical condition few health care professionals have treated before, it can cause needless suffering for the child and tremendous anxiety or depression for parents powerless to help.
Frontline Genomics interviewed RCIGM founder, Stephen Kingsmore, as part of their Genome Giants series, which explores the lives and motivations of some of the most influential figures within the genomics field.
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