For most of us, there is no single day that defines the course of our lives. No obvious line in the sand delineating the “before” from the “after.” For Amanda Kalinsky, however, there is most assuredly a day – April 22nd, 2009. It was the day she found out she...
What is genetic prion disease? Prion diseases are a group of rare, degenerative neurological disorders caused by changes in proteins normally found in the brain, called prions. The exact role of prion protein is unknown, but it is believed to be important to the...
The nervous system is essentially the body’s electrical wiring system, made up of the brain and a complex connection of specialized cells called neurons that transmit signals between different parts of the body. They work together to control all of the body’s...
Autosomal dominant is a pattern of inheritance. Genetic diseases are caused by gene changes, also called mutations or pathogenic variants that cause the gene not to work properly. We inherit two copies of each gene from our parents; one from our mothers and the other...
This is a continuation of a Q&A with Lee Cooper, patient advocate with LQTS and a proud father. Because this is Part 2 of Lee’s story, you may want to go back to read Part 1 first. Leslie: You said that you thought it was difficult initially to get information...