From rare cancers caught early to dementia foretold decades in advance, newborn genomic testing raises an unsettling question ...

Genome-wide association studies have great potential for advancing our understanding of the genetic background of diseases, but so far, few association studies have focused on maternal and newborn ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

Infants with presymptomatic spinal muscular atrophy who were treated with risdiplam had improved functional and survival outcomes. At 12 months, most treated infants were able to sit and stand ...

Genetic newborn screening supports early identification of a child’s critical condition, guiding to a better start in life. Large-scale evidence shows that adding next-generation sequencing (NGS) as a ...

Infant's genetic muscle disorder improved by treating pregnant mother By Michael Irving February 20, 2025 Scientists have treated an often fatal genetic condition in the womb for the first time ...

A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research ...

The MarketWatch News Department was not involved in the creation of this content. CHEO Research Institute and Shriners Hospitals for Children Canada Collaborate to Launch First-of-its-kind Joint ...

Scientists at the UNIGE have identified the genetic sequences that regulate the activity of the genes responsible for bone growth. In mammals, only 3% of the genome consists of coding genes which, ...