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 …

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.

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).

The US Food and Drug Administration (FDA) has cleared Abeona Therapeutics to begin a Phase 1/2 clinical trial evaluating its novel, one-time gene therapy ABO-202 for the treatment of CLN1 disease. ABO-202 is designed to deliver a functional copy of the PPT1 gene to cells of the central nervous system and …

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.