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.
INSIDE PRECISION MEDICINE: The results of an RCIGM research project show that an automated, virtual disease management system that includes fast whole genome sequencing and analysis could help to manage genetic diseases better.
PHARMAVOICE: Newborn screening is gaining prominence across the biopharma and healthcare industries amid efforts to detect and treat disease as early as possible.
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.
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.