Newborn screening test developed for rare, deadly neurological

A study led by Washington University School of Medicine in St. Louis describes a newborn screening test that identifies infants with Niemann-Pick type C, an often fatal condition in which cholesterol builds up and eventually destroys brain cells. Early detection may save lives and improve prospects for managing the disease.

Understanding and Modernizing Newborn Screening - Rare Coalition

International Newborn Genome Sequencing Projects Discuss Differences, Future Goals

Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development - The Lancet Neurology

Newborn screening undermined by hospital delays; babies put at risk

Parents push for standardized screening of Jewish genetic diseases

Newborn babies to be tested for rare diseases - BBC News

IJNS, Free Full-Text

A UK program will sequence the genomes of 100,000 newborn babies

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs - The Lancet Regional Health – Western Pacific