Posts by: Emily Malcolm, PhD

Emily Malcolm, PhD

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.

August 28, 2020September 1, 2020

Skin Biopsy for Pompe Diagnosis: What to Expect?

Health Insight

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 called ... Read more

August 25, 2020August 25, 2020

How Can Spirometry Help Track Pompe Disease Progression?

Health Insight

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 can ... Read more

August 11, 2020August 11, 2020

Electromyography (EMG) and Pompe Disease Diagnosis

Health Insight

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 given ... Read more

July 28, 2020July 28, 2020

High-protein Diet for Pompe Disease

Health Insight

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 diet ... Read more

July 14, 2020July 14, 2020

How Can an Enzyme Activity Test Help Diagnose Pompe Disease?

Health Insight

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

June 22, 2020June 23, 2020

Prenatal Diagnosis for Pompe Disease

Health Insight

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

June 9, 2020June 22, 2020

Reproductive Options if You Are a Pompe Disease Carrier

Health Insight

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 disease-causing ... Read more

May 29, 2020June 2, 2020

Genetic Testing for Pompe Disease: What to Expect

Health Insight

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

April 14, 2020April 14, 2020

Pompe Disease and Pregnancy

Health Insight

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

March 30, 2020April 14, 2020

I Have Pompe Disease; Will I Pass It to My Children?

Health Insight

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 also ... Read more