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GENOMEWEB: [Newborn sequencing] research studies around the world are starting to get off the ground, ranging in size from 1,000 to more than 100,000 infants. At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, eight of these endeavors — based in the US, Europe, and Australia — provided outlines of their plans and goals.
GENOMEWEB: RCIGM President & CEO Stephen Kingsmore provides context for the nanopore’s latest three-hour sequencing announcement.
USA TODAY: Every baby born in the United States is pricked in the heel shortly after birth. A blood sample is then analyzed to look for one of 20 to 30 inherited diseases. Now, doctors want to go even further: They want to look not just at blood, but at genes.
BECKER’S HOSPITAL REVIEW: San Diego-based Rady Children’s Institute for Genomic Medicine has partnered with healthcare data company PlumeCare RWE to create a pilot program that will screen newborns for 400 genetic diseases.
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.
GENOMEWEB: In a paper published this week in the American Journal of Human Genetics, collaborators led by the Rady Children’s Institute for Genomic Medicine (RCIGM) formally spelled out plans to improve detection and treatment of rare hereditary pediatric diseases through rapid whole-genome sequencing (rWGS).
The CDC Genomics & Precision Health blog reviews the state of newborn screening today, including the BeginNGS program.
EP Magazine: Researchers, industry, and patient advocacy groups are driving efforts to facilitate early diagnosis and improve babies’ long-term outlook. Commentary by Catherine Nester, BSN, Inozyme’s VP of Physician and Patient Strategies.
A study published this week in Nature Communications shows that an automated clinical decision support tool for genetic disease diagnosis and treatment can provide accurate results and disease management guidance within 13.5 hours.
STAT: The ever-lower cost is helping to drive fast-moving changes in sequencing. Health systems are preparing to test programs that could lead to the use of whole-genome screening in millions of newborns.
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