The Harry Glorikian Show: Stephen Kingsmore talks with Harry Glorikian about the power of rapid Whole Genome Sequencing™, how far we’ve come in adoption, and much more.
A study of 112 infant deaths found that 41% were associated with a genetic disease, a higher rate than previously recognized, according to a study published in JAMA Network Open.
Genetic diseases contribute more to infant death than previously thought, according to a study published today in the journal JAMA Network Open. Researchers say, however, that the findings can open new avenues for identifying and treating life-threatening illnesses in the youngest children.
Researchers from Rady Children’s Institute for Genomic Medicine have found that the genetic disease contribution to infant deaths is higher than expected. One implication of their study, published on Thursday in JAMA Network Open, is that neonatal diagnosis strategies have the potential to decrease mortality during the first year of life.
GLOBAL GENES PODCAST: Global Genes spoke to spoke to Axel Bolte, co-founder and CEO of Inozyme, about ENPP1 deficiency, its lead experimental therapy to treat the condition, and its work with Rady Children’s Institute for Genomic Medicine to improve the diagnosis of newborns.
PRECISION MEDICINE PODCAST: Dr. Kingsmore joins the Precision Medicine Podcast to discuss the extraordinary role whole-genome sequencing is playing in prolonging and improving the life of critically ill newborns.
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.
TALKING TECHNIQUES PODCAST: This episode of the Talking Techniques podcast explores the impact of whole-genome sequencing on rare disease diagnosis and treatment, from research to clinical outcomes. Features Dr. David Dimmock from RCIGM.
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