ABOUT DR. FREEZE and HIS RESEARCH
Dr. Freeze joined the faculty at the Sanford Burnham Institute in 1988 and served as the Director of the Glycobiology and Carbohydrate Chemistry Program from 2000-2008. He is currently the Director of the Institute's Human Genetics program. His work focuses on pathology resulting from faulty glycosylation, the process of adding sugar chains to proteins and lipids. Carbohydrates are required for proper secretion and targeting of thousands of proteins an often overlooked fact of biology.
He is driven by the search for novel therapeutics to treat patients with mutations leading to glycosylation defects called Congenital Disorders of Glycosylation or CDGs. We invite you to learn about the children with CDGs, read their stories, and meet the researchers seeking a cure for their disorders.
Meet the Freeze Lab
CONGENITAL DISORDERS OF GLYCOSYLATION (CDG)
Today we know of defects in over 100 glycosylation-enabling Genes that cause metabolic disorders compared to just 3 20 years ago. Patients with these diseases have highly variable intellectual disability and motor developmental impairment, seizures, failure to grow, hypoglycemia (low blood sugar), clotting and digestion abnormalities, to name just a few. There are only about 1000 known patients worldwide, but it is likely that many more remain undiagnosed. In 2013 a new glycosylation disorder was reported every 17 days! Physicians are becoming more aware of the disorders and their clinical presentations. Basic scientists continue to discover sugar chains at the helm of many basic metabolic processes. To learn more about our research into these disorders click here.