Rare and Genetic Disease Network


Approved and Emerging Therapies for Mucopolysaccharidoses (MPS)

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

The Rare Disease Film Festival

Daniel DeFabio discusses the Rare Disease Film Festival, a relatively new event showcasing films from around the world which address the challenges of life with a rare disease. The first event was held in Oct of 2017 in Boston, MA.

Defeating MSA (Multiple System Atrophy)

Philip Fortier, executive director of Defeat SMA USA, Defeat SMA Canada, and the MSA Awareness Shoe. Multiple System Atrophy (MSA) is a rare, neurodegenerative disorder that largely affects the autonomic nervous system.

Ehlers Danlos Syndrome

Shani Weber, Patient and Community Advisor for the Ehlers Danlos Society recently talked to us about the role this international organization plays in educating people, including those in the medical community about Ehlers-Danlos syndrome (EDS).

Batten Disease Explained

David Anderson, PhD of Spark Therapeutics is helping the company develop a gene therapy for Batten disease. In this clip, Dr. Anderson describes this rare disease and the need for a gene therapy to cure this progressive, neurodegenerative disorder.

FDA Approves Therapy for Symptomatic Tenosynovial Giant Cell Tumor

The U.S. Food and Drug Administration (FDA) granted approval to Turalio (pexidartinib) capsules for the treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT) associated with severe morbidity or functional limitations and not responsive to...

Lipodystrophy – A Rare Disease, But Not That Rare

Andra Stratton, President and co-founder of Lipodystrophy United talks about the foundation and the large increase in individuals being diagnosed with the disease, possibly as a result of the work LU has done to raise awareness of this rare condition.

Special Reports

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