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.
A skin biopsy is one of the tests that doctors can use to help diagnose Pompe disease, a rare genetic disease characterized by the buildup of complex sugar molecules ... Read more
Spirometry is a common medical test that you can take at your local hospital or clinic to evaluate how well your lungs are working. In late-onset Pompe disease, doctors ... Read more
Electromyography (EMG) is a medical test that doctors can use to assess the health of muscles and nerves, how well they are working and communicating. An EMG may be ... Read more
Pompe disease is a rare disease in which glycogen, a complex sugar molecule, builds up in cells and tissues. This buildup interferes with function, especially in muscles. Changes to ... Read more
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 ... 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 ... Read more
If you are a carrier of Pompe disease, you may be wondering about the risks of passing the disease to your children. A carrier has one copy of a ... 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 ... 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 ... Read more
Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms. If you or your partner has Pompe disease, you may wonder whether the disease will ... Read more
