News

Home > News

Genomenon to Curate Genes for Rady Children's BeginNGS Newborn Screening Panel

2022/8/3 12:53:09 Views:63

Original from: Genomeweb


Genomenon said Tuesday that it has been named the exclusive gene curation partner for Rady Children's Institute for Genomic Medicine's (RCIGM) recently launched BeginNGS newborn screening panel. 


Ann Arbor, Michigan-based Genomenon said that it will curate all genes in the panel and deliver "comprehensive" data about variants within those genes to clinicians, with the goal of improving outcomes in infants with rare genetic diseases. 


San Diego-based RCIGM launched BeginNGS last week in conjunction with a study about Genome-to-Treatment (GTRx), a virtual acute management guidance system to inform treatment of hundreds of hereditary pediatric diseases.


"The goal of BeginNGS and GTRx is to help ensure each baby is screened for treatable genetic conditions, and to help physicians provide effective treatment in a timely manner," RCIGM President and CEO Stephen Kingsmore said in a statement. "Genomenon's essential role in curating actionable genomic information and making it easily accessible to these professionals is helping transform that goal into a reality."


At the Bio-IT World Conference in May, Kingsmore mentioned Genomenon as a founding member of the BeginNGS newborn rapid whole-genome sequencing consortium. Other partners include Inozyme Pharma, Alexion Pharmaceuticals, AstraZeneca, Illumina, TileDB, Fabric Genomics, Genomenon, Travere Therapeutics, and patient advocacy groups.


"By screening for over 400 treatable conditions and providing treatment guidelines to doctors and other clinicians before symptoms start, BeginNGS is creating life-saving opportunities for patients and their families at very early stages," said Genomenon CEO Mike Klein.


Source: Genomenon to Curate Genes for Rady Children's BeginNGS Newborn Screening Panel