Scientists are developing a smartphone app that they say can accurately detect Down syndrome in infants soon after birth. Down syndrome, a genetic disorder that affects about 1-in-1,000 children worldwide, causes physical and intellectual disabilities. Early detection is beneficial to the development of children with the disorder, but that requires sophisticated medical tests not available everywhere. In developed countries, Down syndrome is often detected during prenatal screenings. But in less-developed countries, these tests are often not available. Marius Linguraru, a principal investigator at Washington’s Sheikh Zayed Institute for Pediatric Surgical Innovation, said genetic defects can be hard to diagnose after a baby is born.
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A study by researchers at Children’s National Health System provides direct evidence that targeting specific receptors in white matter cells after brain injury promotes cellular and functional recovery.
Pediatric specialists at Children’s National work closely to ensure an integrated approach to caring for each child and family.
Children’s National Health System investigators have uncovered landmark findings about a gene that plays an essential role in the developing nervous system, particularly in specifying neurons required for the brain’s stress system.
In a feature story in Bloomberg Businessweek about Duchenne muscular dystrophy, Eric Hoffman, PhD, discusses the current tension that exists between families and drug regulators.