pediatric disease
Pediatric Cardiomyopathy Exome Sequencing Study Suggests More Disease Genes to be Found
The researchers were able to reach a molecular diagnosis for about a third of their cohort, but that varied based on age, ancestry, and cardiomyopathy subtype.
Calcium Regulation Genes Tied to Sudden Unexplained Death in Children
Most of the variants the researchers identified in affected children over the age of 1 in their cohort of 124 parent-child trios were de novo mutations.
Genomenon, Inozyme Collaborate on MDx Effort for ENPP1 Deficiency
The companies hope to deliver AI-powered data to labs and clinicians to diagnose and treat a rare calcification disorder.
Illumina, Israel Ministry of Health to Pilot Genome Sequencing for Diagnosing Critically Ill Infants
Illumina is providing the program with DNA PCR-free library preparation reagents and NovaSeq 6000 sequencing reagents for 125 trios, or 375 total samples.
Rady Children's Team Presents Genomic Medicine Management Tool at ASHG
The Genome-to-Treatment (GTRx) resource aims to provide front-line clinicians with information needed to manage and treat rare genetic conditions in infants and children.