Clinical Spotlight: Dr. Kingsmore on setting the new standard for diagnosis through accessible rapid genome testing.
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 […]
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.
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.