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Overview

Dr. Weinstein with Children

The Glycogen Storage Disease Program at the University of Florida is the largest clinical research program for GSD in the world. Our mission is to provide the best possible care for children and adults with GSD and to pursue advances in research, which will improve the quality of life or cure people with GSD.

What is GSD?

Glycogen storage disease is a rare genetic disorder affecting 1 in 100,000 newborns.

In normal physiology, when a person eats, blood sugar levels rise and glucose is used for immediate energy. The glucose that is not used is stored as glycogen in the liver. The body detects when blood sugar is dropping, when you need energy, and signals glycogen to be released from the liver. People affected by GSD lack the enzymes required to store or release stored glycogen. People with GSD must maintain the blood sugar from outside the body. With various missing enzymes, depending on the type of GSD one has, the body tries to use alternative pathways to supply the body with energy. These alternative pathways create serious health risks such as elevated triglycerides, cholesterol, uric acid, ketones, lactates, etc.

A Sweet Discovery

GSD was almost universally fatal until 1971 when the first effective therapy was discovered, cornstarch!

While this may not sound sophisticated, cornstarch has turned GSD from a fatal disease to one where people are thriving. Because cornstarch is a slow releasing form of glucose, individuals affected by GSD are able to maintain safe and healthy blood sugar levels. When treated properly, patients can often avoid many of the side effects that used to be more common. But, during periods of suboptimal treatment patients may develop permanent neurologic damage, seizures, or even die.
While this may not sound sophisticated, it turned this from a fatal disease to one where people are thriving. When treated properly, patients are healthy; when suboptimal treatment occurs, however, patients may develop permanent neurologic damage, seizures, or even die. Even with modern therapy, complications remain common including hepatic adenomas, liver cancer, renal failure, osteoporosis, anemia, and inflammatory blowel disease.

Our Program

In 2005, Dr. Weinstein moved from Harvard Medical School and Children's Hospital Boston to the University of Florida in order to pursue a dream of performing gene therapy in glycogen storage disease. The lack of a vet school in Boston made it impossible to perform the studies, and the University of Florida offered outstanding research infrastructure. Since arriving in 2005, core teams have been created in 10 areas.

  • Gene Therapy Team
  • Adult Stem Cell Team
  • Neurologic Disorders and Attention Deficit Hyperactivity Team
  • Treatment Trial Team
  • Cardiovascular Team
  • Exercise Team
  • Anemia Team
  • Inflammatory Bowel Disease Team
  • Liver Team
  • Dental Research Team