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Carol Tiffany, M.S.
Kennedy Krieger Institute
707 N. Broadway
Baltimore, MD 21205
Phone: (443) 923-2757
Carol Tiffany is a clinical biochemist in the Peroxisomal Diseases Laboratory at Kennedy Krieger Institute and a research assistant in the Institute of Genetic Medicine at Johns Hopkins University.
Carol Tiffany received a master's degree in biotechnology from Johns Hopkins University in 2002. She has spent many years in the pharmaceutical industry, performing research in the areas of neurology, as well as pain and inflammation. In 1991, she collaborated with Dr. Hugo Moser on a project that involved the inflammation pathway of patients with peroxisomal diseases. In 2002, she was appointed to a research assistant position in the Johns Hopkins Institute for Genetic Medicine (IGM) where she managed a yeast genome-wide screening project. In 2006, she accepted the position of clinical biochemist in the Peroxisomal Diseases Laboratory at Kennedy Krieger Institute, while maintaining her faculty appointment in the IGM at Johns Hopkins.
The peroxisomal diseases laboratory receives approximately 100 blood samples per week for the GC/MS analysis of total lipid fatty acids, including the very long chain fatty acids, essential fatty acids and branched chain fatty acids. Individuals with increased plasma very long chain fatty acids and/or branched chain fatty acids have genetic disorders of peroxisomal metabolism. The peroxisomal disorders include patients with X-linked adrenoleukodystrophy (XALD), Zellweger syndrome and Refsum's disease. Besides diagnosing these disorders, the lab also measures plasma and red blood cell fatty acids to follow the dietary therapy of Lorenzo’s oil (a proprietary formulation containing omega-3 fish oil). The NIH and FDA fund these studies. The XALD diagnosis can present as a childhood cerebral form or an adult peripheral neuropathy, with the absolute amount of elevated very long chain fatty acids having no correlation to the presentation. Current studies on the autoimmune aspect of this disease seek to discover genetic and/or epigenetic modifiers that might influence the childhood versus adult presentation of this disease.