Horizon Carrier Screen
August 29, 2016
Learn About Duchenne
Duchenne muscular dystrophy is the most common fatal genetic condition diagnosed in childhood. The condition primarily affects boys, and about 1 in 3,500 boys are born with Duchenne each year. The condition has a similar incidence to a more well-known condition, cystic fibrosis. Unlike cystic fibrosis, carrier screening for Duchenne has not been as widely available until recently. If a woman is a carrier for Duchenne, she has a 50 percent chance of having an affected child if she has a boy. Join Doctor Kimberly Martin, senior global medical director for Natera, as she discusses the benefits of early carrier screening Duchenne muscular dystrophy. We’ll also hear from Leia, who is a Duchenne carrier and a big advocate of early screening. Leia will discuss how knowing your carrier status can help with family planning decisions and, potentially, your own health.
Behind the Mystery is a special segment dedicated to revolutionizing the way the health care system works for those suffering from a rare and genetic disorder.
Behind the Mystery takes a closer look at one of the two types of Polycystic Kidney disease. Autosomal Dominant Polycystic Kidney Disease, or ADPKD, is a rare, genetic condition.
Behind the Mystery takes a closer look at Blastic Plasmacytoid Dendritic Cell Neoplasm, a rare disease that is often misdiagnosed and affects at least 500 to 1,000 patients each year in the U.S.