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...
As a genetic counselor, I have heard hundreds of patient stories. Now and again, there are some that create quite an impact; so much of an impact that it changes the way you provide information to other patients. Lee Cooper is that person who profoundly changed how I...
One of the most recent developments in the field of genetics is called genome editing. This group of scientific techniques allows for the addition, removal, or modification of DNA. CRISPR is a method for genome editing that has gained popularity as it is considered to...
Metabolism is the series of chemical reactions that break down food into energy in the body. Inborn errors of metabolism are rare genetic conditions that result in blockages in that pathway, typically due to the lack of or ineffective function of certain enzymes. A...
Colorectal cancer is fairly common for both men and women in the United States. The lifetime risk for developing colorectal cancer is 1 in 22 for men and just slightly lower for women (1 in 24). There are many factors that can increase the risk of developing...
Performing preimplantation genetic testing (PGT) for a monogenic/single-gene disorder (also referred to more specifically as PGT-M or PGD) is a complicated process that involves in vitro fertilization (IVF), embryo biopsy, and designing a specific genetic test to...
