Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas.
Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
One test that doctors use to diagnose Pompe disease, a rare genetic disease caused by mutations in the GAA gene, is an enzyme activity test. GAA provides cells with the instructions necessary ... Read more
If you are at risk of transmitting Pompe disease to your children, you may be thinking about your reproductive options and interested in prenatal diagnostic testing. What is prenatal diagnosis? ... Read more
Genetic testing looks for changes in genes and chromosomes that might indicate you have a genetic disease such as Pompe disease. Genetics of Pompe disease Pompe disease is caused by mutations ... Read more
Pompe disease is a rare disorder caused by mutations in a gene called GAA, which provides instructions for making an important enzyme called acid alpha-glucosidase (also known as acid maltase). ... Read more