In August 2015, Taiwan began testing every newborn for a group of rare enzyme problems called mucopolysaccharidoses (MPS). The goal was to find the disease early and start treatment before serious damage occurs. Researchers later reviewed how many babies were caught, when they were diagnosed, and wh
In a move to catch serious health issues early, the U. S. has added two rare genetic disorders to its newborn screening list. Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) are now part of the recommended screenings for newborns. This change means babies can be tested at b
Hungary has been checking newborns for serious health issues for 50 years now. This started with tests for two rare conditions: phenylketonuria and galactosemia. Later, they added a test for congenital hypothyroidism 40 years ago. Today, they test for 27 different disorders, plus an optional test fo
Pompe disease is a genetic condition. It is caused by problems in the GAA gene. This leads to a lack of an enzyme called lysosomal acid α-glucosidase. This enzyme is crucial for breaking down glycogen in cells. Without it, glycogen builds up and causes harm. The number of people with Pompe disease
Spinal muscular atrophy (SMA) is a genetic disorder. It affects the nerves that control muscles. This can lead to weakness and even death. But there is hope. Early treatment makes a big difference. Newborn screening (NBS) is a key player in this fight. It helps spot SMA early. This allows for quick
China has been on a mission to improve the diagnosis of inherited metabolic disorders (IMDs) in newborns. The focus has been on urinary organic acid analysis. This type of testing is vital for spotting these disorders early. A five-year plan was put into action to standardize how these tes
In 2019, Ontario made a big step forward in detecting hearing loss in newborns. They started a new screening program that looks for signs of permanent hearing loss (PHL) in babies right after they're born. This isn't just about checking if babies can hear sounds, but also looking into their genes fo
Wouldn't it be great if all genetic disorders could be detected early, especially the ones that can be treated? Yet, many aren't tested for because it's expensive and needs fancy equipment. Enter SCAN: a new, affordable way to check for common aneuploidies using nanopore sequencing. SCAN first ampli
