EveryLife Foundation: Advocating for the 30 Million US Rare …
WEBNovember 21, 2022. BOSTON, Massachusetts—With more rare disease therapies than ever winning approval from the US Food and Drug Administration (FDA), things are looking up for the 30 million or so Americans whose illnesses are considered rare—meaning they affect fewer than 200,000 people. Annie Kennedy is chief of policy, advocacy, and ...
History of Sickle Cell Disease - Rare Disease Advisor
WEBThe first case of sickle cell disease (SCD) in the United States was described in 1904 when Walter Clement Noel, a 20-year-old dental student from Grenada, sought care for anemia at Chicago Presbyterian Hospital where he met Dr. James B. Herrick (1861-1954), a cardiologist and professor of medicine. Noel experienced recurrent episodes of “muscular rheumatism” and “bilious attacks” over ...
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
WEBChronic inflammatory demyelinating polyneuropathy (CIDP) is a rare, acquired, immune-mediated neurological disease characterized by inflammation of peripheral nerves and nerve roots with destruction of the myelin sheath, which is the fatty protective covering of the nerve fibers. This demyelination results in typical symmetrical motor and sensory weakness. 1 Both sexes can develop CIDP at any ...
Cystic Fibrosis Epidemiology - Rare Disease Advisor
WEBCystic fibrosis is a progressive, inherited, rare disease in which CF transmembrane conductance regulator (CFTR) gene mutations produce abnormal CFTR protein channels that negatively affect the transportation of sodium and chloride ions across cellular epithelial membranes.This results in the accumulation of thick, sticky mucus, which causes progressive dysfunction in multiple organ systems. 1 ...
ANCA-Associated Vasculitis Life Expectancy - Rare Disease Advisor
WEBAntineutrophil 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 ...
Glassia (Alpha₁-Proteinase Inhibitor [Human ... - Rare Disease Advisor
WEBGlassia ® is an alpha1-proteinase inhibitor used for chronic augmentation and maintenance therapy in adults with emphysema due to severe alpha-1 antitrypsin deficiency (AATD). Kamada Ltd., the Israeli company that developed Glassia, submitted a biologics license application to the US Food and Drug Administration (FDA) on June 2, 2009, seeking ...
The Unparalleled Potential of AI in Rare Disease Research and …
WEBJul 24, 2024 · But when it comes to healthcare—and specifically rare diseases—AI’s potential for good is unparalleled, industry leaders say. AI is a “once-in-a-century opportunity” and could generate up to $110 billion a year in economic value for pharmaceutical firms, “but only if they learn to scale it and address the industry’s unique ...
Systemic Sclerosis Types - Rare Disease Advisor
WEBSystemic sclerosis (SSc), also referred to as systemic scleroderma, is a rare autoimmune condition in which fibrosis and vasculopathy affects the skin and various organ systems. The word scleroderma (“hard skin”) is derived from the Greek words “skleros,” meaning hardness, and “derma,” meaning skin. 1 . Scleroderma, as a condition of skin hardening, may present as localized or ...
Ingrezza (Valbenazine) - Rare Disease Advisor
WEBMay 22, 2020 · Ingrezza ® (valbenazine) is selective vesicular monoamine transporter 2 (VMAT2) inhibitor that is indicated for the treatment of chorea associated with Huntington disease (HD) in adult patients. It has a simple dosing schedule, with 1 capsule given once daily without any requirement for titration. It was developed by Neurocrine Biosciences and approved by the US Food and Drug Administration ...
Hemolytic Disease of the Fetus and Newborn (HDFN)
WEBOverview. Hemolytic disease of the fetus and newborn (HDFN), also known as erythroblastosis fetalis, is a rare immune-mediated red blood cell (RBC) disorder in which a mismatch between mother and fetus causes maternal antibodies to attack fetal or newborn RBCs. 1 This destruction of fetal or neonatal RBCs by maternal immunoglobulin G (IgG ...