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Study Shows Fabric’s GEM AI Improves Rare Disease Diagnosis

Clinical OMICs

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 […]

October 14, 2021

Early Genome Sequencing Improves Care for Critically Ill Infants

Clinical OMICs

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

September 30, 2021

Previously Unexplained Birth Defects Rooted in Genetic Mutations

MedPage Today

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.

September 29, 2021

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.

September 27, 2021

Whole Genome Sequencing in Babies Proves Mettle

MedPage Today

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.

September 27, 2021

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.

September 23, 2021

Finding Answers for Undiagnosed Patients with Rare Genetic Diseases


Despite the ability of whole genome sequencing to diagnose patients with rare genetic disease, the technology still leaves many patients without a clear diagnosis. Rady Children’s Institute for Genomic Medicine, which has innovated the use of rapid whole genome sequencing in the neonatal and pediatric ICU, is now working to diagnosed patients left undiagnosed by […]

September 16, 2021

A childhood of daily seizures. A medicine created just for her son. Will it work?

San Diego Union-Tribune

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.

September 16, 2021

Nicklaus Children’s Hospital ‘Project Baby Manatee’: Advanced Genomics Cuts Diagnostic Delays & Costs

Florida Trend

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.

September 13, 2021

Genome Giants: Stephen F. Kingsmore – President and CEO of Rady Children’s Institute for Genomic Medicine

Frontline Genomics

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.

September 7, 2021