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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.
KGI: INNOVATION IN APPLIED LIFE SCIENCES & HEALTHCARE PODCAST: In this episode, Dr. Stephen Kingsmore discusses reviewing the first 10 years of genome-informed healthcare for children and predicting the next 10 years.
Two thirds of children who underwent genetic testing in the pediatric intensive care unit showed a genetic variant, and a third of these children received changes in care as a result, according to a new study presented at the Society of Critical Care Medicine’s (SCCM) 2023 Critical Care Congress.
The use of diagnostic rapid whole-genome sequencing (rWGS) can play a crucial role in guiding treatment for critically ill children, researchers reported at the 2023 Critical Care Congress, in San Francisco.
Today we highlight three potentially practice-changing studies…. When the reason for a child’s critical illness is unclear, rapid genetic testing often helps identify the problem and point doctors to the right treatment – but it is currently underused, researchers say.
California-based researchers described how they trained a deep-learning model to detect DNA mutations called mosaic mutations that could support the development of treatments for several diseases.
Researchers at the UCSD School of Medicine and RCIGM have created a deep learning tool that uncovers disease-causing mosaic mutations, a first step they say to find ways to develop treatments for many diseases.
WISH-TV, Indianapolis: A new screening for newborns could expand the number of genetic diseases infants are tested for before they leave the hospital. The project is called BeginNGS, with the NGS standing for Newborn Genomic Sequencing.
RARE DISEASE REPORT: Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.
© 2024 Rady Children's Institute for Genomic Medicine.