Rare and Genetic Disease Network


Podcast Focused on Rare Diseases

Rare in Common, a podcast hosted by Andra Stratton, regularly posts conversations with leaders in the rare disease community to help them share their stories.

Next Generation Gene Therapy

Odylia Therapeutics is a non-profit corporation working to help develop gene therapies for rare eye disease; in this clip Harrison Brown, PhD, BBA, the company’s Chief Science Officer, discusses what will be the next ‘big thing’ in gene therapy development.

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).

Typical Physical Features Across All SubTypes of Mucopolysaccharidoses (MPSs)

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the typical physician features across all subtypes 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.

Gene Therapy to Treat Localized Scleroderma

John Maslowski, President and Chief Executive Officer (CEO) of Fibrocell Science, discusses his company’s gene therapy pipeline, including a therapy to treat localized scleroderma.

Odylia Therapeutics – A Nonprofit Gene Therapy Company

Scott Dorfman, CEO of Odylia Therapeutics, explains the origins and philosophy of Odylia Therapeutics, a non-profit company designed to find treatments for rare disease likely to be overlooked by for-profit organizations.

Update on Patisiran to Treat Hereditary ATTR

Akshay Vaishnaw, MD, PhD, Chief Medical Officer at Alnylam Pharmaceuticals discussed the company’s approved RNA interference (RNAi) drug, Patisiran, to treat to hereditary transthyretin-mediated amyloidosis (ATTR).

Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial giant cell tumor (TGCT) is a benign tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).

Special Reports