House Approves Extending Vouchers for Pediatric Rare Disease …
Rare disease advocacy groups are praising the US House of Representatives’ passage of the Give Kids a Chance Act, which, among other things, extends the Rare Pediatric Disease …
Achondroplasia Genetics - Rare Disease Advisor
Although rare, achondroplasia is the most common skeletal dysplasia affecting humans, accounting for more than 90% of cases characterized by disproportionately short stature. 1 …
ANCA-Associated Vasculitis Life Expectancy - Rare Disease Advisor
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a heterogeneous group of rare autoimmune diseases in which ANCA target and activate neutrophils. These, in turn, …
Rare Disease News, Perspectives & Resources - Rare Disease Advisor
Rare Disease News is the premier online resource for the latest rare disease news, perspectives and information.
Achondroplasia Life Expectancy - Rare Disease Advisor
Most individuals with achondroplasia, the most common type of short-limbed and short-stature dwarfism, have a normal or near-normal life expectancy. 1 The average lifespan of individuals …
IgG4-Related Disease Life Expectancy - Rare Disease Advisor
Immunoglobulin G4-related disease (IgG4-RD) is a rare, immune-mediated, fibroinflammatory condition that may affect multiple organs, especially the pancreas, salivary glands, lacrimal …
Gene Editing Treatment Could Transform Life With HAE - Rare …
Mar 6, 2024 · Judith Knox of Whangarei, New Zealand, has more than 5 decades of experience navigating life with hereditary angioedema (HAE). Her journey has included abdominal …
Pulmonary Arterial Hypertension Life Expectancy - Rare Disease …
Mar 29, 2022 · Pulmonary arterial hypertension (PAH) is a severe, chronic pulmonary arteriolar disease characterized by increased pulmonary vascular resistance. It affects functional …
Transthyretin-Mediated Amyloid Cardiomyopathy (ATTR-CM)
Transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) is a subtype of systemic amyloidosis in which abnormally folded, insoluble transthyretin protein forms amyloid fibrils that are …
Huntington Disease Epidemiology - Rare Disease Advisor
Huntington disease (HD) is a progressive, neurodegenerative, genetic disorder characterized by involuntary, unpredictable, sudden movements (chorea) of the extremities and facial muscles, …