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Orphanet
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks. Orphanet was founded in France in 1997 by Inserm, the French National Institute of Health and Medical Research. The website is managed by a network of academic establishments from 40 countries, led by Inserm, and is a European Union Health Programme Joint Action. It contains content for both physicians and patients. Its administrative office is in Paris and its official medical journal is the '' Orphanet Journal of Rare Diseases'' published on its behalf by BioMed Central. , the site provides information on over 6,100 rare diseases and 5,400 genes. Available information Orphanet is an online database with the goal 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 nomenclatu ... [...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, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin 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. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphan Drug
An orphan drug is a medication, pharmaceutical agent that is developed to treat certain rare medical conditions. An orphan drug would not be profitable to produce without government assistance, due to the small population of patients affected by the conditions. The conditions that orphan drugs are used to treat 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 that depends on the legislation (if there is any) of the country. Designation of a drug as an orphan drug has yielded medical breakthroughs that might not otherwise have been achieved, due to the economics of drug medical research, research and development. Examples of this can be that 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 en ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inserm
The (Inserm, ) is the French National Institute of Health and Medical Research. History and organisation Inserm was created in 1964 as a successor to the French National Institute of Health. Inserm is the only public research institution solely focused on human health and medical research in France. It is a public institution with a scientific and technical vocation under the dual auspices of the Ministry of Health and the Ministry of Research. Similarly to the US National Institutes of Health, Inserm conducts fundamental and translational research projects through 339 research units, run by around 13,000 scientists, including 5,100 permanent research staff members and 5,100 staff members co-affiliated with university hospitals and medicine faculties. Inserm's laboratories and research units are located all over France, mainly in the largest cities. Eighty percent of Inserm research units are embedded in research hospitals of French universities. In 1997, Inserm founded ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Progeria
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A (''LMNA''), makes a protein necessary for holding the cell nucleus together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that cause individuals to age faster than usual, leading to them appearing older than they actually are. People born with progeria typically live until their mid- to late-teens or early twenties. Severe cardiovascular complications usually develop by puberty, later on resulting in death. Signs and symptoms Most children with progeria appear normal at birth and during early infancy. Children with progeria usually develop the first symptoms during their first few months of life. The earliest symptoms may include a failure to thrive an ... [...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, including diagnosis, screening or monitoring. 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 periods of in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Websites
Health information on the Internet refers to all health-related information communicated through or available on the Internet. Description The Internet is widely used by the general public as a tool for finding health information. In the late 1990s, researchers noted an increase in Internet users' access to health-related content despite the variation in the quality of information, level of accessibility, and overall health literacy. Access to health information does not guarantee understanding, as health literacy of individuals vary. It is believed patients who know their medical history may learn and interpret this information in a way that benefits them. This, however, is not always the case because online health information is not always peer reviewed. Physicians worry that patients who conduct Internet research on their medical history are at a risk of being misinformed. In 2013, the opinions about the relationship between health care providers and online health information w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Databases
Medicine is the science and practice of caring for patients, managing the diagnosis, prognosis, prevention, treatment, palliation of their injury or disease, and promoting their health. Medicine encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness. Contemporary medicine applies biomedical sciences, biomedical research, genetics, and medical technology to diagnose, treat, and prevent injury and disease, typically through pharmaceuticals or surgery, but also through therapies as diverse as psychotherapy, external splints and traction, medical devices, biologics, and ionizing radiation, amongst others. Medicine has been practiced since prehistoric times, and for most of this time it was an art (an area of creativity and skill), frequently having connections to the religious and philosophical beliefs of local culture. For example, a medicine man would apply herbs and say prayers for healin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Organisation For Rare Diseases
European, or Europeans, may refer to: In general * ''European'', an adjective referring to something of, from, or related to Europe ** Ethnic groups in Europe ** Demographics of Europe ** European cuisine, the cuisines of Europe and other Western countries * ''European'', an adjective referring to something of, from, or related to the European Union ** European Union citizenship ** Demographics of the European Union In publishing * ''The European'' (1953 magazine), a far-right cultural and political magazine published 1953–1959 * ''The European'' (newspaper), a British weekly newspaper published 1990–1998 * ''The European'' (2009 magazine), a German magazine first published in September 2009 *''The European Magazine'', a magazine published in London 1782–1826 *''The New European'', a British weekly pop-up newspaper first published in July 2016 Other uses * * Europeans (band), a British post-punk group, from Bristol See also * * * Europe (other) * The Europ ... [...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 several 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 Portfolio, 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 transactio ... [...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 registries and data providers: * 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 * Cli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
