Global Genes spoke to the co-founder 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.
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.