Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnosing rare diseases and how rare diseases need to be considered early in the diagnostic work up.
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).
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.
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.
Kristen Wheeden, Director of Development for the American Porphyria Foundation, discusses current treatment options for Porphyria, including some treatments in clinical trials.
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnosing rare diseases.