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— Mark Sands, Washington University Global biochemical profiling determines the fundamental mechanisms of Lysosomal storage diseases and enables the exploration of new directions for Washington University’s research.
Mark S. Sands, Ph.D., Professor of Medicine and Genetics
Washington University School of Medicine, Department of Internal Medicine Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that encompass at least 50 distinct diseases. Individually, these disorders are rare but as a group they occur with a frequency of approximately 1 in 5,000 live births, making them one of the most common inherited childhood diseases.
Click here to read the full story. (Free Access)
Discovery of Biochemical Markers for Understanding Disease The Challenge: Discovery of Disease-Specific Biomarkers Related to Disease Mechanism and Phenotype With the advent of ‘omic technologies and systems biology research, the search for disease-specific biomarkers has flourished. These technologies provide a comprehensive view of the genetic, protein and biochemical nature of disease. The search for disease biomarkers can yield many different types of biomarkers... Click here to download the full application note. (Free Access)
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"Although we and others have developed a number of relatively efficacious therapies, none of them completely correct the spectrum of clinical signs associated with these diseases. The only way to improve on the existing therapies is to determine the underlying mechanisms of disease. The metabolomics data have provided insights into the fundamental mechanisms of the disease and has allowed us to explore new directions with our research.”
