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INSIDE PRECISION MEDICINE: While the field of rare diseases has seen much progress both in diagnostics and the development of new therapies, there are still significant challenges that need to be overcome to reach the majority of the 300 million people worldwide who are affected by these conditions.
CBS8 NEWS: The Culver City 8th grader has been staying with his family at the Ronald McDonald house in San Diego for the past few months since the surgery.
TODAY: Lindzi Scharf’s “feisty” 3-year-old daughter, Evan, loved wearing sunglasses. When the little girl died last year from mitochondrial disease, Scharf turned her favorite accessory into a piece of art.
GENOMEWEB: An international team has tracked down rare glioma-related variants in seven genes through a genome sequencing study that tapped into a collection of familial glioma that began well over a decade ago.
HITConsultant.net: Chris Tackaberry, founder and CEO of Clinithink, reviews the role of AI in transforming the diagnostic odyssey, focusing on RCIGM’s work with Clinical Natural Language Processing.
NEW ZEALAND DOCTOR: In this cover story, journalist Alan Perrott grills a leader in genome sequencing and artificial intelligence on the future of healthcare.
SCITECH DAILY: International research teams have uncovered a new cause for pediatric seizures: mosaicism, a condition in which cells within the same individual have different genetic compositions.
FORBES: A U.K. program will begin genome sequencing on 100,000 babies this year, but some experts believe the practice could prove unethical.
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.
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