![]() Increased awareness of CDG in the medical community generated expanded government funding that allies us with 10 medical centers in the US seeking additional patients to study their natural history, develop biomarkers and test emerging therapies. Since very few laboratories in the United States work on CDG, we are developing new molecular diagnostic methods to handle the increasing number of patients. Ongoing collaborations with academic physicians provide a steady flow of new patients for analysis. Some also traffic and distribute the glycosylation machinery within cells. Defects occur in genes that activate and transport sugars, assemble them into glycans and remodel them. The Freeze lab not only identifies new glycosylation disorders, but also tries to understand how these defects cause the disease manifestations. Our collaborations In this image and film clip above, Harrison Ford poses a few questions for us. Rocket: We helped diagnose this young man over 10 years ago, and although he tragically passed away, his gentle face still reminds us of who we work for.įlourishing, Brianna is now training to become a veterinarian.īrianna: Sometimes our work leads to brighter outcomes as in the case of Brianna who we met over 20 years ago and treated with a simple therapy. Defective glycosylation is also known to cause 15 types of muscular dystrophy. Physicians are becoming more aware of glycosylation disorders in general, and basic scientists continue to discover sugar chains at the helm of many basic metabolic processes. These are rare disorders having a few thousand known patients worldwide, but it is likely that many remain undiagnosed, especially in developing countries. Patients with these diseases have highly variable mental and motor developmental delay, seizures, failure to grow, hypoglycemia (low blood sugar), clotting and digestion abnormalities and skeletal abnormalities to name just a few. Today we know of defects in over 140 genes, well over double those known only 10 years ago. ![]() We focus is on a group of metabolic diseases called Congenital Disorders of Glycosylation (CDG). The explosive growth in the number of different diseases caused by defective glycosylation. ![]()
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