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DARK DAILY: Research in the UK and US into how rapid WGS can prevent deaths and improve outcomes for kids with rare genetic diseases may lead to more genetic testing based in local clinical laboratories.
CBS8 News: A Culver City teen who has dreams of being an NBA star complained of a stomach ache, two weeks later he got a heart transplant.
RCHSD KITE INSIGHTS BLOG: It all started with a stomachache which quickly turned into a more serious heart condition.
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.
Researchers who believe genomics can transform human health love to recount success stories. They’ll tell you about the 3-month-old boy whose heart was failing until researchers pinpointed what was ailing him. Or the baby girl who could have had a life-threatening reaction to anesthesia had researchers not sequenced her DNA ahead of time.
Though they’re not listed in national statistics, single gene disorders may be the largest single cause of death in the first year of life, according to a new research paper from the Rady Genomics Institute in San Diego.
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