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...
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...
Ever since Angelina Jolie shared with the world her BRCA status and her choice to undergo a prophylactic mastectomy, a growing number of women have asked: “Should I have BRCA testing too?” BRCA1 and BRCA2 are the genes that cause the two most common hereditary breast...
What is Hereditary Breast and Ovarian Cancer syndrome? While most cancer happens by chance (i.e. sporadic), about 5-10% of cancers are caused, in part, by inheriting a genetic variant from a parent that increases the risk for certain cancers over a person’s lifetime....
October is Breast Cancer Awareness Month, but some of you have breast cancer on your minds all year long. Maybe you’re a breast cancer survivor or your family members have had the disease. Five to ten percent of people with cancer have an inherited form, such as...
Background The option to conceive a child using assisted reproductive technology (ART), including in vitro fertilization (IVF), became available in the late 1970s. This means that the first children to be born following conceptions using ART are now in their forties....
