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
EPP and XLP are rare conditions that make life hard for those who have them. These genetic disorders cause a toxic buildup in the body. This leads to pain when exposed to sunlight. People with these conditions often face a tough life. Their daily activities are greatly affected. Yet, there are few t
Cardiofaciocutaneous syndrome is a rare genetic disorder. It is part of a group of conditions known as RASopathies. These conditions are caused by mutations in genes that control cell growth and division. People with CFC face a higher chance of developing cancer. This is due to the genetic change
Angelman syndrome is a rare genetic condition. It affects the brain and nerves. Many kids with Angelman syndrome also have autism. But how autism shows up in these kids can change over time. That's what a recent study wanted to find out. The study looked at 107 kids with Angelman syndrome. They wer
Let's chat about a little-known genetic disorder called classical homocystinuria (HCU). It's a rare condition that messes with how your body handles two key substances, homocysteine and methionine. These usually help build proteins, but in people with HCU, their levels go sky-high. Now, you might th
Ever wondered what it's like for parents whose kids have rare genetic brain conditions? Let's dive into their world. Imagine having a child with Dravet syndrome or Doose syndrome. These are types of developmental and epileptic encephalopathies (DEE), which affect the brain in unique ways. Parents f
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
