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 is not clear. This is because different places use different ways to ...

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 treatment. The results are impressive. Infants who get early treatmen...

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 tests are done across the country. The plan started in 2019 and wra...

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 for any red flags. Specifically, they look for a virus called cytomegal...

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 amplifies, then tags (barcodes) DNA. It then sequences these tagged bits w...