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Already well known for its groundbreaking effort to rapidly diagnose and treat newborn children with rare, often life-threatening diseases, Rady Children’s Institute for Genomic Medicine (RCIGM) announced it has launched a novel program to evaluate the scalability of new diagnostic and precision medicine that screens for approximately 400 genetic diseases that have available treatment options.
Rady Children’s Hospital-San Diego is preparing to launch a consortium aimed at making rapid whole-genome sequencing (rWGS) a standard of care for newborns. Stephen Kingsmore, president and CEO of the Rady Children’s Institute for Genomic Medicine previewed the plan at the Bio-IT World Conference & Expo here Thursday. A more formal announcement will come next month.
AI has the potential to revolutionize the field of genomic diagnostics. Healthcare Tech Outlook looks at how RCIGM has created a machine-learning based process that incorporates Natural Language Processing to rapidly and accurately diagnose genetic illnesses.
Artificial intelligence (AI) is revolutionizing genomic medicine by providing better health outcomes. BBN Times explores two applications of AI in genomic diagnostics, including RCIGM’s rWGS®.
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.
Rapid whole genome sequencing will become more useful, augmented by EHR data, the use of the cloud and comparisons with large databases, says Stephen Kingsmore, MD.
Babies with Fitz’s condition, commonly known as “bubble boy disease,” rarely survive to toddlerhood. He became one of the first babies anywhere to get a specific diagnosis within days of birth and an experimental therapy several months later that appears to have worked.
Project Baby Deer is allowing Bronson Children’s Hospital to diagnose genetic disorders in as fast as 30 hours; something that used to take nearly 30 days.
In 2021, the Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of NHGRI identified its ten most significant peer-reviewed studies for 2021.
While it is safe to say that RCIGM has sufficiently proven its ability to identify the genetic variants driving many of these life-threatening rare conditions, it is now on a mission to bring its method of diagnosing sick babies to health systems across the country.
© 2023 Rady Children's Institute for Genomic Medicine.