Clinical Biochemist, Peroxisomal Diseases Laboratory
Phone: 443-923-2757
Kennedy Krieger Institute

707 N. Broadway
Baltimore, MD 21205
United States


Carol Tiffany is assistant director in the Peroxisomal Diseases Laboratory at Kennedy Krieger Institute.


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 2002 she had a faculty appointment in the IGM at Johns Hopkins Medical Institute where she was manager of a yeast genome project.  In 2006 she accepted the position of clinical biochemist in the Peroxisomal Diseases Laboratory at Kennedy Krieger Institute.  She is currently the assistant director of the lab.  She assesses clinical lab quality control and generates patient reports from gas chromatography/mass spectrometry analysis.  She also guides and trains junior research fellows in the investigation of genetic diseases of metabolism toward therapeutic outcome.


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.

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