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Mihael Polymeropoulos
Mihael H. Polymeropoulos (born February 27, 1960) is a Greek-American physician and scientist. He is known for his work in the Human Genome Project and the discovery of mutations in the alpha synuclein gene as the first genetic cause of Parkinson's disease while at the National Institutes of Health. He is currently the CEO and Chairman of the Board of Vanda Pharmaceuticals a publicly traded company based in Washington DC which he co-founded in 2003. Early scientific career and research accomplishments After graduating from the University of Patras School of Medicine at age 23, he pursued his passion for molecular genetics research and joined the laboratory of Dr Sankar Adhya at the National Cancer Institute of the National Institutes of Health. At the NCI he studied the molecular regulation of transcription of the bacterial galactose operon of E. Coli through the interaction of the galactose repressor molecule with the two galactose operator sites. He continued his training and c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genome Project
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It was the world's largest collaborative biological project. Planning for the project began in 1984 by the US government, and it officially launched in 1990. It was declared complete on 14 April 2003, and included about 92% of the genome. Level "complete genome" was achieved in May 2021, with only 0.3% of the bases covered by potential issues. The final gapless assembly was finished in January 2022. Funding came from the US government through the National Institutes of Health (NIH) as well as numerous other groups from around the world. A parallel project was conducted outside the government by the Celera Corporation, or Celera Genomics, which was formall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pycnodysostosis
Pycnodysostosis () is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. History The disease was first described by Maroteaux and Lamy in 1962 at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. The defective gene responsible for the disease was discovered in 1996. The French painter Henri de Toulouse-Lautrec (1864–1901) is believed to have had the disease. Signs and symptoms Pycnodysostosis causes the bones to be abnormally dense; the last bones of the fingers (the distal phalanges) to be unusually short; and delays the normal closure of the connections ( sutures) of the skull bones in infancy, so that the "soft sp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Institutes Of Health People
National may refer to: Common uses * Nation or country ** Nationality – a ''national'' is a person who is subject to a nation, regardless of whether the person has full rights as a citizen Places in the United States * National, Maryland, census-designated place * National, Nevada, ghost town * National, Utah, ghost town * National, West Virginia, unincorporated community Commerce * National (brand), a brand name of electronic goods from Panasonic * National Benzole (or simply known as National), former petrol station chain in the UK, merged with BP * National Book Store, a bookstore and office supplies chain in the Philippines * National Car Rental, an American rental car company * National Energy Systems, a former name of Eco Marine Power * National Entertainment Commission, a former name of the Media Rating Council * National Motor Vehicle Company, Indianapolis, Indiana, USA 1900–1924 * National Radio Company, Malden, Massachusetts, USA 1914–1991 * National Supermarke ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Living People
Purpose: Because living persons may suffer personal harm from inappropriate information, we should watch their articles carefully. By adding an article to this category, it marks them with a notice about sources whenever someone tries to edit them, to remind them of WP:BLP (biographies of living persons) policy that these articles must maintain a neutral point of view, maintain factual accuracy, and be properly sourced. Recent changes to these articles are listed on Special:RecentChangesLinked/Living people. Organization: This category should not be sub-categorized. Entries are generally sorted by family name In many societies, a surname, family name, or last name is the mostly hereditary portion of one's personal name that indicates one's family. It is typically combined with a given name to form the full name of a person, although several give .... Maintenance: Individuals of advanced age (over 90), for whom there has been no new documentation in the last ten ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
1960 Births
It is also known as the " Year of Africa" because of major events—particularly the independence of seventeen African nations—that focused global attention on the continent and intensified feelings of Pan-Africanism. Events January * January 1 – Cameroon becomes independent from France. * January 9– 11 – Aswan Dam construction begins in Egypt. * January 10 – British Prime Minister Harold Macmillan makes the "Wind of Change" speech for the first time, to little publicity, in Accra, Gold Coast (modern-day Ghana). * January 19 – A revised version of the Treaty of Mutual Cooperation and Security between the United States and Japan ("U.S.-Japan Security Treaty" or "''Anpo (jōyaku)''"), which allows U.S. troops to be based on Japanese soil, is signed in Washington, D.C. by Prime Minister Nobusuke Kishi and President Dwight D. Eisenhower. The new treaty is opposed by the massive Anpo protests in Japan. * January 21 ** Coalbrook mining disaster: A coal mine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Synucleinopathy
Synucleinopathies (also called α-Synucleinopathies) are neurodegenerative diseases characterised by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. There are three main types of synucleinopathy: Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). Other rare disorders, such as various neuroaxonal dystrophies, also have α-synuclein pathologies. Additionally, autopsy studies have shown that around 6% of sporadic Alzheimer's Disease exhibit α-synuclein positive Lewy pathology, and are sub-classed as Alzheimer's Disease with Amygdalar Restricted Lewy Bodies (AD/ALB). Presentation The synucleinopathies have shared features of parkinsonism, impaired cognition, sleep disorders, and visual hallucinations. Synucleinopathies can sometimes overlap with tauopathies, possibly because of interaction between the synuclein and tau proteins. REM sleep behavior disorder (RBD) is a parasomnia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Niemann–Pick Disease Type C
Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's") is a lysosomal storage disease associated with mutations in ''NPC1'' and ''NPC2'' genes. Niemann–Pick type C affects an estimated 1:150,000 people. Approximately 50% of cases present before ten years of age, but manifestations may first be recognized as late as the sixth decade. Despite its name, Niemann-Pick disease, type C has very little to do with SMPD1-associated Niemann–Pick disease, although they were once thought to be the same disease. Signs and symptoms Niemann–Pick type C disease has a wide clinical spectrum. Affected individuals may have enlargement of the spleen (splenomegaly) and liver (hepatomegaly), or enlarged spleen or liver combined (hepatosplenomegaly), but this finding may be absent in later onset cases. Prolonged jaundice or elevated bilirubin can present at birth. In some cases, however, enlargement of the spleen or liver does not occur for months or years – or not at all. Enlargemen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
