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The United States of America as Represented by the Department of Health

Joseph G Hacia

Mark S Chee

Francis S Collins

James Inglese

Patricia Dranchak

Nancy E Braverman

Provided herein are methods of treating Zellweger spectrum disorder (ZSD) in a subject in need thereof or improving peroxisome assembly in a cell in need thereof comprising administering to the subject a therapeutically effective amount of Compounds of Formula I or II.

Compositions and methods for the treatment of Zellweger spectrum disorder

The invention provides methods of analyzing a nucleic acid in a target sample for variant alleles. In such methods, a first-labelled control sample and a second-labelled target sample are hybridized to at least one set of probes. The control sample comprises a homozygous reference allele. The target sample comprises the homozygous reference allele, or variant alleles differing from the reference allele at a locus, or one variant allele differing from the reference allele at the locus and one reference allele. The probes in the probe set span the locus and are complementary to the reference allele. After hybridization the intensity of first and second label bound to each probe in the set is measured. This information is then used to indicate the presence of one variant allele and one reference allele, or the presence of two variant alleles in the target sample.

Probe-based analysis of heterozygous mutations using two-color labelling

Growing community of inventors

Rockville, MD, United States of America

Joseph G Hacia