J. Edwin Seegmiller
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J. Edwin Seegmiller
J(arvis) Edwin Seegmiller, or Jay Seegmiller, (June 22, 1920 – May 31, 2006) was an American physician and biochemical genetics, biochemical geneticist best known for his role in discovering the biochemical basis of the Lesch–Nyhan syndrome. He was a rheumatologist and a pioneer in research on arthritis, arthritic diseases and on aging. Life Jay Seegmiller was born into a Mormon family in the small town of St. George, Utah, St. George in southwestern Utah. He attended the University of Utah in Salt Lake City where he majored in chemistry and graduated with a bachelor's degree in 1942. He then served in the US Army. After the war, he went to medical school and received his Doctor of Medicine degree with honors from the University of Chicago in 1948. After an internship at Johns Hopkins Hospital in Baltimore, he trained at the National Institute of Arthritis and Metabolic Disease (NIAMD),The National Institute of Arthritis and Metabolic Disease (NIAMD) is now the National Ins ...
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Physician
A physician (American English), medical practitioner (Commonwealth English), medical doctor, or simply doctor, is a health professional who practices medicine, which is concerned with promoting, maintaining or restoring health through the study, diagnosis, prognosis and treatment of disease, injury, and other physical and mental impairments. Physicians may focus their practice on certain disease categories, types of patients, and methods of treatment—known as specialities—or they may assume responsibility for the provision of continuing and comprehensive medical care to individuals, families, and communities—known as general practice. Medical practice properly requires both a detailed knowledge of the academic disciplines, such as anatomy and physiology, underlying diseases and their treatment—the ''science'' of medicine—and also a decent competence in its applied practice—the art or ''craft'' of medicine. Both the role of the physician and the meaning ...
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National Institutes Of Health
The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1880s and is now part of the United States Department of Health and Human Services. The majority of NIH facilities are located in Bethesda, Maryland, and other nearby suburbs of the Washington metropolitan area, with other primary facilities in the Research Triangle Park in North Carolina and smaller satellite facilities located around the United States. The NIH conducts its own scientific research through the NIH Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program. , the IRP had 1,200 principal investigators and more than 4,000 postdoctoral fellows in basic, translational, and clinical research, being the largest biomedical research instit ...
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Mental Retardation
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and beh ...
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X-linked Recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499, and the total, including vaguely defined trait ...
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William Nyhan
William Leo Nyhan (born March 13, 1926) is an American physician best known as the co-discoverer of Lesch–Nyhan syndrome. Nyhan currently serves as professor of pediatrics at UC San Diego School of Medicine in La Jolla, California. He has held positions at Johns Hopkins School of Medicine and the University of Miami Leonard M. Miller School of Medicine and has served on a number of advisory committees, pediatric advisory boards, and research foundation boards. Nyhan's areas of research span a variety of amino acid metabolism disorders, among them 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia. He has studied the neuropathology of propionic acidemia, including the manifestation of basal ganglia infarction and its neurologic, non-metabolic presentation. Currently, he conducts research into the causes of progressive neurologic disability caused by methylmalonic acidemia ...
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La Jolla, California
La Jolla ( , ) is a hilly, seaside neighborhood within the city of San Diego, California, United States, occupying of curving coastline along the Pacific Ocean. The population reported in the 2010 census was 46,781. La Jolla is surrounded on three sides by ocean bluffs and beaches and is located north of Downtown San Diego and south of the Orange County, California, Orange County line. The climate is mild, with an average daily temperature of . La Jolla is home to many educational institutions and a variety of businesses in the areas of lodging, dining, shopping, software, finance, real estate, bioengineering, medical practice and scientific research. The University of California, San Diego (UCSD) is located in La Jolla, as are the Salk Institute for Biological Studies, Salk Institute, Scripps Institution of Oceanography (part of UCSD), Scripps Research Institute, and the headquarters of National University (California), National University (though its academic campuses are ...
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American College Of Rheumatology
The American College of Rheumatology (ACR; until 1985 called American Rheumatism Association) is an organization of and for physicians, health professionals, and scientists that advances rheumatology through programs of education, research, advocacy and practice support relating to the care of people with arthritis and rheumatic and musculoskeletal diseases. It organizes scientific meetings, publishes three medical journals (''Arthritis & Rheumatology'', ''Arthritis Care & Research'', and ''ACR Open Rheumatology''), and promotes (through the Research and Education Foundation) research into rheumatological conditions, including the formulation of diagnostic criteria for diseases. Its division, the Association of Rheumatology Health Professionals, represents non-physician health care professionals in the field. See also *ACR score for rheumatoid arthritis ACR score is a scale to measure change in rheumatoid arthritis symptoms. It is named after the American College of Rheumatology. T ...
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National Academy Of Sciences
The National Academy of Sciences (NAS) is a United States nonprofit, non-governmental organization. NAS is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Engineering (NAE) and the National Academy of Medicine (NAM). As a national academy, new members of the organization are elected annually by current members, based on their distinguished and continuing achievements in original research. Election to the National Academy is one of the highest honors in the scientific field. Members of the National Academy of Sciences serve '' pro bono'' as "advisers to the nation" on science, engineering, and medicine. The group holds a congressional charter under Title 36 of the United States Code. Founded in 1863 as a result of an Act of Congress that was approved by Abraham Lincoln, the NAS is charged with "providing independent, objective advice to the nation on matters related to science and technology. ... to provide scien ...
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External Links
An internal link is a type of hyperlink on a web page to another page or resource, such as an image or document, on the same website or domain. Hyperlinks are considered either "external" or "internal" depending on their target or destination. Generally, a link to a page outside the same domain or website is considered external, whereas one that points at another section of the same web page or to another page of the same website or domain is considered internal. These definitions become clouded, however, when the same organization operates multiple domains functioning as a single web experience, e.g. when a secure commerce website is used for purchasing things displayed on a non-secure website. In these cases, links that are "external" by the above definition can conceivably be classified as "internal" for some purposes. Ultimately, an internal link points to a web page or resource in the same root directory. Similarly, seemingly "internal" links are in fact "external" for ...
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United States Public Health Service
The United States Public Health Service (USPHS or PHS) is a collection of agencies of the Department of Health and Human Services concerned with public health, containing nine out of the department's twelve operating divisions. The Assistant Secretary for Health oversees the PHS. The Public Health Service Commissioned Corps (PHSCC) is the federal uniformed service of the PHS, and is one of the eight uniformed services of the United States. PHS had its origins in the system of marine hospitals that originated in 1798. In 1871 these were consolidated into the Marine Hospital Service, and shortly afterwards the position of Surgeon General and the PHSCC were established. As the system's scope grew to include quarantine authority and research, it was renamed the Public Health Service in 1912. A series of reorganizations in 1966–1973 began a shift where PHS' divisions were promoted into departmental operating agencies. PHS was established as a thin layer of hierarchy above ...
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UCSD
The University of California, San Diego (UC San Diego or colloquially, UCSD) is a public university, public Land-grant university, land-grant research university in San Diego, California. Established in 1960 near the pre-existing Scripps Institution of Oceanography, UC San Diego is the southernmost of the ten campuses of the University of California, and offers over 200 undergraduate and graduate degree programs, enrolling 33,096 undergraduate and 9,872 graduate students. The university occupies near the coast of the Pacific Ocean, with the main campus resting on approximately . UC San Diego is ranked among the best universities in the world by major college and university rankings. UC San Diego consists of twelve undergraduate, graduate and professional schools as well as seven undergraduate residential colleges. It received over 140,000 applications for undergraduate admissions in Fall 2021, making it the second most applied-to university in the United States. UC San Diego H ...
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University Of California, San Diego
The University of California, San Diego (UC San Diego or colloquially, UCSD) is a public university, public Land-grant university, land-grant research university in San Diego, California. Established in 1960 near the pre-existing Scripps Institution of Oceanography, UC San Diego is the southernmost of the ten campuses of the University of California, and offers over 200 undergraduate and graduate degree programs, enrolling 33,096 undergraduate and 9,872 graduate students. The university occupies near the coast of the Pacific Ocean, with the main campus resting on approximately . UC San Diego is ranked among the best universities in the world by major college and university rankings. UC San Diego consists of twelve undergraduate, graduate and professional schools as well as seven undergraduate residential colleges. It received over 140,000 applications for undergraduate admissions in Fall 2021, making it the second most applied-to university in the United States. UC San Diego H ...
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