Genetics

Diagnostic and genetic testing
Mucopolysaccharidosis (MPS) Resource Center

Mucopolysaccharidosis (MPS) Resource Center

Mucopolysaccharidoses (MPSs) are a group of genetic lysosomal disorders in which persons have low levels of specific enzymes that leads to an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans).

Overview of the Mucopolysaccharidoses

Overview of the Mucopolysaccharidoses

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of the mucopolysaccharidoses (MPSs) a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.

Gene Therapy Will Get Less Expensive

Gene Therapy Will Get Less Expensive

As Dr. Brown explains in this video, gene therapy is ideal suited for many rare diseases since most rare diseases have a genetic origin. But with 6000 – 7000 known rare diseases and with gene therapy costing over $1 million a therapy, the cost of developing gene therapy for many of the 30 million Americans with a rare condition is not sustainable.

Common Early Features of MPS

Common Early Features of MPS

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the common early features of ,mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.

Centogene’s Diagnostic Portfolio

Centogene’s Diagnostic Portfolio

Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses his company’s role in identiying rare diseases. In this video, Dr. Rolfs says that his company has the industry’s largest diagnostic potfolio.

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