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Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the ''Orphanet Journal of Rare Diseases'' published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. Functions available Orphanet is an online database with the aspiration of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes) Orphanet makes a contribution in making them more visible in health and research information systems. The information is ava ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the ''Orphanet Journal of Rare Diseases'' published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. Functions available Orphanet is an online database with the aspiration of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes) Orphanet makes a contribution in making them more visible in health and research information systems. The information is ava ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet Journal Of Rare Diseases
The ''Orphanet Journal of Rare Diseases'' is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and the editor-in-chief is Francesc Palau (Hospital Sant Joan de Déu Barcelona and CIBERER, Spain). It is an official journal of Orphanet and is published by BioMed Central, which is part of Springer Nature. Aims, scope and content By its own definition, Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes reviews on specific rare diseases, as well as articles on clinical trial outcome reports (positive or negative), and articles on public health issues in the field of rare diseases and orphan drugs. Readers can find contributions which are directly from patients affected by a rare disease or about events, such as the Rare Disease Day. Readers also have the possibility to search articles according to their subject or have t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphan Drug
An orphan drug is a pharmaceutical agent developed to treat medical conditions which, because they are so rare, would not be profitable to produce without government assistance. The conditions are referred to as orphan diseases. The assignment of orphan status to a disease and to drugs developed to treat it is a matter of public policy in many countries and has yielded medical breakthroughs that might not otherwise have been achieved, due to the economics of drug research and development. In the U.S. and the EU, it is easier to gain marketing approval for an orphan drug. There may be other financial incentives, such as an extended period of exclusivity, during which the producer has sole rights to market the drug. All are intended to encourage development of drugs which would otherwise lack sufficient profit motive to attract corporate research budgets and personnel. Definition According to the US Food and Drug Administration (FDA), an orphan drug is defined as one "intended for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Progeria
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome. A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the Nucleus of the cell together. When this gene gets mutated an abnormal form of lamin A protein called Progerin is produced. Progeroid syndromes are a group of diseases that causes individuals to age faster than usual, leading to them appearing older than they actually are. Patients born with progeria typically live to an age of mid-teens to early twenties. Severe cardiovascular complications usually develop by puberty, resulting in death. Signs and symptoms Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent, usually around 18–24 months. Limite ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Organisation For Rare Diseases
The European Organisation for Rare Diseases (EURORDIS) is a non-governmental patient-driven alliance of patient organizations and individuals active in the field of rare diseases, that promotes research on rare diseases and commercial development of orphan drugs. EURORDIS is dedicated to improving the quality of life of all people living with rare diseases in Europe. It was founded in 1997; it is supported by its members and by the French Muscular Dystrophy Association (AFM), the European Commission, corporate foundations and the health industry. There are an estimated 20–30 million people living with rare diseases in Europe alone, and an estimated 6,000 rare diseases. EURORDIS represents more than 960 rare disease organisations in 63 different countries (of which 26 are EU Member States), covering more than 2,000 rare diseases. EURORDIS is a development of the patient self-advocacy movement, itself widely attributed to AIDS activism. EURORDIS was the founding partner of Rare D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Springer Nature
Springer Nature or the Springer Nature Group is a German-British academic publishing company created by the May 2015 merger of Springer Science+Business Media and Holtzbrinck Publishing Group's Nature Publishing Group, Palgrave Macmillan, and Macmillan Education. History The company originates from a number of journals and publishing houses, notably Springer-Verlag, which was founded in 1842 by Julius Springer in Berlin (the grandfather of Bernhard Springer who founded Springer Publishing in 1950 in New York), Nature Publishing Group which has published ''Nature (journal) , Nature'' since 1869, and Macmillan Education, which goes back to Macmillan Publishers founded in 1843. Springer Nature was formed in 2015 by the merger of Nature Publishing Group, Palgrave Macmillan and Macmillan Education (held by Holtzbrinck Publishing Group) with Springer Science+Business Media (held by BC Partners). Plans for the merger were first announced on 15 January 2015. The transaction was concluded ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
International Clinical Trials Registry Platform
The International Clinical Trials Registry Platform (ICTRP) is a platform for the registration of clinical trials operated by the World Health Organization. The ICTRP combines data from multiple cooperating clinical trials registries to generate a global view of clinical trials worldwide, with a search portal that allows access to the entire dataset. It requires a minimum standard set of database fields, the WHO Trial Registration Data Set, to be present for a trial to be registered. All entries are given a Universal Trial Number (UTN) that identifies them uniquely. The organization has sought to assist various national governments in establishing their own clinical trials databases. , it combines data from the following primary source registries: * Australian New Zealand Clinical Trials Registry (ANZCTR) * Brazilian Clinical Trials Registry (ReBec) * Chinese Clinical Trial Registry (ChiCTR) * Clinical Research Information Service (CRiS), Republic of Korea * Clinical Tri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
World Health Organization
The World Health Organization (WHO) is a specialized agency of the United Nations responsible for international public health. The WHO Constitution states its main objective as "the attainment by all peoples of the highest possible level of health". Headquartered in Geneva, Switzerland, it has six regional offices and 150 field offices worldwide. The WHO was established on 7 April 1948. The first meeting of the World Health Assembly (WHA), the agency's governing body, took place on 24 July of that year. The WHO incorporated the assets, personnel, and duties of the League of Nations' Health Organization and the , including the International Classification of Diseases (ICD). Its work began in earnest in 1951 after a significant infusion of financial and technical resources. The WHO's mandate seeks and includes: working worldwide to promote health, keeping the world safe, and serve the vulnerable. It advocates that a billion more people should have: universal health care coverag ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Test
A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic testing, chemical and cellular analysis, relating to clinical chemistry and molecular diagnostics, are typically performed in a medical setting. Types of tests By purpose Medical tests can be classified by their purposes, the most common of which are diagnosis, screening and evaluation. Diagnostic A diagnostic test is a procedure performed to confirm or determine the presence of disease in an individual suspected of having a disease, usually following the report of symptoms, or based on other medical test results. This includes posthumous diagnosis. Examples of such tests are: * Using nuclear medicine to examine a patient suspected of having a lymphoma. * Measuring the blood sugar in a person suspected of having diabetes mellitus after ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Online Mendelian Inheritance In Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
International Classification Of Diseases
The International Classification of Diseases (ICD) is a globally used diagnostic tool for epidemiology, health management and clinical purposes. The ICD is maintained by the World Health Organization (WHO), which is the directing and coordinating authority for health within the United Nations System. The ICD is originally designed as a health care classification system, providing a system of diagnostic codes for classifying diseases, including nuanced classifications of a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or disease. This system is designed to map health conditions to corresponding generic categories together with specific variations, assigning for these a designated code, up to six characters long. Thus, major categories are designed to include a set of similar diseases. The ICD is published by the WHO and used worldwide for morbidity and mortality statistics, reimbursement systems, and automated d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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