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 (RPD) Priority Review Voucher (PRV) program until 2029.. On September 23, 2024, the House voted unanimously to reauthorize the program for 5 years, following intense lobbying by the National Organization for Rare ...
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 Fibroblast Growth Factor Receptor 3 Gene. Achondroplasia results from known pathogenic variants of the fibroblast growth factor receptor 3 (FGFR3) gene, which is located on the short arm of chromosome 4 at locus 4p16.3 ...
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, attack the cells lining small blood vessels, causing inflammation and damage. 1 Depending on which organ or system is affected, the symptoms of AAV can vary greatly.
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 with achondroplasia is around 10 years less than that of the general population, mainly due to cardiovascular causes in middle-aged individuals. 1-4 However, individuals born with the homozygous genotype for ...
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 glands, orbits, biliary tract, lungs, and retroperitoneum. It leads to masses or inflammatory lesions and is often associated with elevated serum IgG4 concentrations. 1 ...
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 swelling, nausea, and vomiting; life-threatening swelling of the mouth and tongue; and eventually exploratory surgery as doctors endeavored to find the cause of more than 20 years of then-unexplained angioedema attacks.
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 capacity and quality of life, and it can cause right-sided heart failure and a reduction in life expectancy.
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 deposited in interstitial spaces within the myocardium. 1 . Transthyretin amyloidosis (ATTR) is a systemic disease; therefore, amyloid fibrils may also be deposited in …
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, as well as cognitive decline and emotional disturbances. 1,2 . Incidence and Prevalence of HD. In 2012, researchers conducted a systematic review and meta-analysis of the literature published between 1985 and ...