Twenty years ago, a 45-year-old woman with a recent diagnosis of breast cancer went to see a dermatologist, who noted hyperpigmentation of her lips. The dermatologist clinically diagnosed her as having Peutz-Jeghers syndrome (PJS), a rare genetic condition that often...
Given the rapid and numerous developments in the field of genetics, there is a growing need for genetic counselors in nearly every area of medicine, as well as a need for students that represent all of us. This includes people of color, men, members of the LGBTQIA+...
To date, more than 89 million cases of COVID-19 have been confirmed worldwide, with more than 1.9 million global deaths. In the United States, there have been more than 22 million cases and more than 372,000 deaths from COVID-19 so far. The rapid roll-out of multiple...
This is part of a series of articles written to highlight rare hereditary cancer syndromes. In this interview, Heather shares her story of living with Cowden syndrome. Genetic Counseling Note: People who have a mutation (also known as a pathogenic variant) in the PTEN...
Spina bifida means “split” or “open” spine in Latin. It is a birth defect in which a fetus’s spine does not form correctly during pregnancy. The spinal cord normally ‘zips’ closed early in pregnancy. If it fails to close...