Inozyme Pharma said on Thursday that it has partnered with the Rady Children’s Institute for Genomic Medicine (RCIGM) on whole-genome sequencing-based newborn screening for genetic diseases. Through the BeginNGS consortium, the partners will use whole-genome sequencing-based newborn screening to identify infants affected by ENPP1 deficiency and ABCC6 deficiency. Inozyme is developing a novel therapy, INZ-701, currently in […]
Rady Children’s Institute for Genomic Medicine (RCIGM) has launched a program that aims to advance newborn screening for treatable genetic diseases through rapid whole-genome sequencing.
SD UNION-TRIBUNE: A new initiative from the Rady Children’s Institute for Genomic Medicine hopes to screen newborns for nearly 400 genetic conditions.
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.
GENOMEWEB: California, the nation’s most populous state, recently began covering rapid diagnostic whole-genome sequencing (rWGS) for sick infants under Medicaid. The decision, in theory, should make the test more widely available, leading to faster diagnoses, better medical decisions, and lower healthcare costs in many cases.
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®.
PRECISION MEDICINE PODCAST: 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.