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...
People that pursue preimplantation genetic testing for monogenic disorders (PGT-M) with in vitro fertilization (IVF) usually do so to avoid passing down a genetic risk to their biological children. They typically do this by choosing not to transfer embryos found to...
When a doctor or genetic counselor orders a genetic test, the intent is to determine if their patient has a change in a specific gene that could explain their symptoms or that has been passed down through their family. Changes in genes, or mutations, can alter the...
For families and providers alike, one word can drastically complicate discussions about genetic testing results: “mosaicism.” In biology and medicine, mosaicism refers to a mixture of cells with different genetics within an organism or an embryo, some normal and some...
Rebecca Hughes was only 31 when she received devastating news. She had Stage 3 ovarian cancer. Due to the aggressive nature of ovarian cancer and the lack of effective screening for potential recurrences, the recommended treatment protocol is a complete hysterectomy...