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...
Individuals who have family members with certain medical conditions may benefit by seeing a genetic counselor to explore the risk to develop the condition themselves as well as pass it on to their children. One part of the consultation will usually be to record the...
Autosomal dominant polycystic kidney disease (ADPKD), one of the most common life-threatening hereditary diseases, is being diagnosed at an earlier age thanks to new technologies and an increased awareness of the disease among health care professionals. Thus,...
Watching a loved one suffer from a debilitating disease is heartbreaking. It’s also scary thinking about whether you may also develop the same condition or pass it on to your own children. Preimplantation genetic testing (PGT) is an option for many people facing...
When considering the risk of having a child with a genetic disease, most people are quick to think about their family history — but that isn’t the only risk factor. Most intended parents don’t realize that certain ethnic backgrounds or ancestry is...
Mutations in the BRCA genes give women an elevated risk of developing breast and ovarian cancer — this is known as hereditary breast and ovarian cancer (HBOC) syndrome. According to the National Cancer Institute, BRCA1 and BRCA2 are tumor suppressor genes: in other...
