CORE--CLINICAL AND CELL BIOLOGY

Hugo W. Moser Res Inst Kennedy Krieger, Baltimore MD

Investigators

Linked publications & trials

Abstract

DESCRIPTION: The Clinical and Cell Biology Core is a key component of the Peroxisomal Diseases Laboratory. The Core provides VLCFA diagnostic assays for a variety of laboratories, not only for the program project, and as such represents a valuable resource. It now includes epidemiological studies, genotype-phenotype correlation, counseling, and studies of therapeutic interventions. Concerning specifically these applications, the Core provides services to all of the projects in this program. A clinical section evaluates patients and collects and banks patient samples. DNA mutational analysis has been added more recently for X-ALD. Neuroimaging tools, including MRI and MRS, are available to help characterize patients. Biochemical assays are available to phenotype individual disorders. The Cell Biology section provides Core facilities for establishing cell lines from patients and for specialized biochemical analyses of metabolic status in cells lines and knockout mice. Tissue culture, HPLC and gas chromatography/mass spectrometry are available for lipid and fatty acid identification and quantification.