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 19, 2020August 19, 2020

Seizures in Sanfilippo Syndrome

Health Insights

Sanfilippo syndrome is a rare genetic disorder characterized by mental and developmental disabilities. Patients are unable to break down a complex sugar molecule called glycosaminoglycans (GAGs), also called mucopolysaccharides. ... Read more

July 20, 2020July 21, 2020

Self-care Tips for Sanfilippo Syndrome Caregivers

Health Insights

Being a caregiver for a child with Sanfilippo syndrome can often be stressful and taxing. Studies have shown that caregivers for Sanfilippo syndrome patients report a significant reduction in ... Read more

June 30, 2020June 30, 2020

If My Child Has Sanfilippo, Will the Next Child Inherit It Too?

Health Insights

If you have a child with Sanfilippo syndrome, you may be wondering whether having another child may put that child at risk of inheriting the disease as well. How ... Read more

June 23, 2020June 23, 2020

How Are Different Types of Sanfilippo Syndrome Inherited?

Health Insights

Sanfilippo syndrome refers to a group of disorders caused by mutations in genes that provide instructions for making proteins that play a role in the pathways for breaking down ... Read more

June 16, 2020June 16, 2020

Reproductive Options for Sanfilippo Syndrome Carriers

Health Insights

The prevalence of Sanfilippo syndrome in the general population is about 1 in 70,000 people. However, if you are a carrier of the disease, the risk of passing the rare metabolic ... Read more

June 9, 2020June 9, 2020

Sanfilippo Syndrome Type A Versus Type B

Health Insights

Sanfilippo syndrome (also called MPS III) is a rare genetic disease characterized by neurodegeneration, or the death of nerve cells. There are four subtypes of Sanfilippo syndrome, marked as ... Read more

June 2, 2020June 2, 2020

Genetic Counseling with Sanfilippo Syndrome and Why It’s Important

Health Insights

Genetic counseling helps you understand how a genetic disease can affect you and your family, and your risk of transmitting the disease to your children. If you have a ... Read more

May 26, 2020May 27, 2020

Challenges of Enzyme Replacement Therapy for Sanfilippo Syndrome

Health Insights

Sanfilippo syndrome is a lysosomal storage disorder. Mutations in one or more of four genes — GNS, HGSNAT, NAGLU, and SGSH — can cause the disease. These four genes are important for the function of ... Read more

May 10, 2020May 11, 2020

Clinical Trials and Sanfilippo Syndrome

Health Insights

Patients with rare diseases like Sanfilippo syndrome can help with research into treatments for the disease by participating in clinical trials. They may also have access to new treatments being ... Read more

May 4, 2020May 5, 2020

How Does Sanfilippo Syndrome Differ From Other MPS Types?

Health Insights

Sanfilippo syndrome is a type of mucopolysaccharidosis (MPS), which are lysosomal storage disorders. The lysosome is a compartment within cells that functions as the “garbage collectors,” collecting cellular waste ... Read more