Rare diseases catalogs

WEBThere are more than 7,000 rare diseases. We have begun to list these diseases here as well as provide a link to a community dedicated to rare diseases called RareShare. …

WEB14q22q23 microdeletion syndrome. Other names: 14q22-q23 microdeletion syndrome, Del(14)(q22q23), Monosomy 14q22-q23, Monosomy 14q22q23

WEBDec 13, 2022 · Rare Diseases at FDA. Over 7,000 rare diseases affect more than 30 million people in the United States. Many rare conditions are life-threatening and most …

WEB1-888-205-2311. Contact GARD. Use the contact form to send your question to a GARD Information Specialist. Please allow 2 to 10 business days for us to respond. Ask a …

WEB3 days ago · National Organization for Rare Disorders. NORD advances practical, meaningful, and enduring change so people with rare diseases can live their fullest and best lives. Every day, we elevate care, advance …

WEBBrowse Rare Disease Information. The table below displays a list of all rare diseases contained within RARe-SOURCE™, their gene associations, links to related features …

WEBRare diseases may individually be rare but are collectively common. Details from GARD and the disease harmonization database at NCATS are integrated to allow investigation of rare diseases with genetic etiology. …

WEBView the diseases that we currently study here. To learn about other rare diseases, visit the NIH’s Genetic and Rare Diseases Information Center (GARD), which helps the public reliable information about rare and …

WEBJan 23, 2023 · RARE DISEASE FACTS. DISEASE: disorder, illness, or condition aff ecting fewer than 200,000 people in the United States is considered rare.1. There are …

WEBJul 13, 2021 · To round out the list, China’s first published Rare Diseases Catalog [8, 9] of 121 rare diseases/disease types and China’s Lists of Novel Drugs Approved in Other …

WEBNov 16, 2023 · Rare Diseases. Pompe disease is a rare, inherited disorder characterized by the deficiency of an enzyme called acid alpha-glucosidase (GAA). One of the primary …

WEBThe rare diseases are regularly updated, in close collaboration and conceptual identity with Orphanet. The work is also linked to the "WHO Collaborative Global Network 4 Rare …

WEBApr 12, 2023 · The Sanofi Rare Disease Registries represent more than 30 years of real-world data collection from across the global rare disease community. Today, real-world …

WEBRare Diseases Clinical Research Network (RDCRN) Our mission is to advance medical research on rare diseases by providing support for clinical studies and facilitating …

WEBSep 19, 2023 · This draft guidance is intended to advance and facilitate the development of drugs and biological products for the treatment of rare diseases. Rare Pediatric …

WEBOur foundation in rare disease is lysosomal storage disorders (LSDs): a group of rare genetic conditions caused by enzyme deficiencies. 3 Our pipeline today encompasses …

WEBDec 18, 2021 · In May 2018, China’s first “Rare Diseases Catalog” was jointly published by National Health Commission, Ministry of Science and Technology, Ministry of Industry …