AdvocacyLeading advocates and experts share their experiences
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.
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.
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).
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.
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).
KAT6A syndrome is a rare genetic condition as a result of a mutation in the KAT6A gene. That gene produces the KAT6A protein that is instrumental in DNA packaging and the production of other proteins in the cell.
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.
Lynn O’Connor Vos, President and Chief Executive Officer of the Muscular Dystrophy Association (MDA) provides an overview of her association.
That ease of letting the U.S. take care of the work means that Canada is missing out on early patient access, research funding, and biotech investments.
At the BIO International Convention recently held in Philadelphia, PA, we talked with Christina Hartman, Senior Director of Advocacy & Policy for the EveryLife Foundation for Rare Diseases about the origins of this amazing organization.