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William A. Gahl
William A. Gahl currently serves as the Clinical Director of the National Human Genome Research Institute at the NIH main campus in Bethesda, MD. Gahl graduated with a BS degree from Massachusetts Institute of Technology in 1972. He earned his MD degree from the University of Wisconsin, Madison in 1976 and his PhD degree in 1981. Gahl is a board-certified medical geneticist. Gahl conducts research on rare inborn errors of metabolism, focussing on the observation and treatment of patients in the clinic as well as carrying out biochemical, molecular biological, and cell biological investigations in the laboratory. His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases. Gahl was the leader in creating the National Institutes of Health Undiagnosed Diseases Program (UDP). The UDP is a trans-National Institutes of Health (NIH) initiative that focuses on the most puzzling medical cases referred to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
William A Gahl
William is a masculine given name of Norman French origin.Hanks, Hardcastle and Hodges, ''Oxford Dictionary of First Names'', Oxford University Press, 2nd edition, , p. 276. It became very popular in the English language after the Norman conquest of England in 1066,All Things William"Meaning & Origin of the Name"/ref> and remained so throughout the Middle Ages and into the modern era. It is sometimes abbreviated "Wm." Shortened familiar versions in English include Will, Wills, Willy, Willie, Liam, Bill, and Billy. A common Irish form is Liam. Scottish diminutives include Wull, Willie or Wullie (as in Oor Wullie or the play ''Douglas''). Female forms are Willa, Willemina, Wilma and Wilhelmina. Etymology William is related to the German given name ''Wilhelm''. Both ultimately descend from Proto-Germanic ''*Wiljahelmaz'', with a direct cognate also in the Old Norse name ''Vilhjalmr'' and a West Germanic borrowing into Medieval Latin ''Willelmus''. The Proto-Germ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sialic Acid
Sialic acids are a class of alpha-keto acid sugars with a nine-carbon backbone. The term "sialic acid" (from the Greek for saliva, - ''síalon'') was first introduced by Swedish biochemist Gunnar Blix in 1952. The most common member of this group is ''N''-acetylneuraminic acid (Neu5Ac or NANA) found in animals and some prokaryotes. Sialic acids are found widely distributed in animal tissues and related forms are found to a lesser extent in other organisms like in some micro-algae, bacteria and archaea. Sialic acids are commonly part of glycoproteins, glycolipids or gangliosides, where they decorate the end of sugar chains at the surface of cells or soluble proteins. However, sialic acids have been also observed in ''Drosophila'' embryos and other insects. Generally, plants seem not to contain or display sialic acids. In humans the brain has the highest sialic acid content, where these acids play an important role in neural transmission and ganglioside structure in synaptogene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Wisconsin School Of Medicine And Public Health Alumni
A university () is an institution of higher (or tertiary) education and research which awards academic degrees in several academic disciplines. ''University'' is derived from the Latin phrase ''universitas magistrorum et scholarium'', which roughly means "community of teachers and scholars". Universities typically offer both undergraduate and postgraduate programs. The first universities in Europe were established by Catholic Church monks. The University of Bologna (), Italy, which was founded in 1088, is the first university in the sense of: *being a high degree-awarding institute. *using the word ''universitas'' (which was coined at its foundation). *having independence from the ecclesiastic schools and issuing secular as well as non-secular degrees (with teaching conducted by both clergy and non-clergy): grammar, rhetoric, logic, theology, canon law, notarial law.Hunt Janin: "The university in medieval life, 1179–1499", McFarland, 2008, , p. 55f.de Ridder-Symoens, Hilde''A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
American Geneticists
American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, people who self-identify their ancestry as "American" ** American English, the set of varieties of the English language native to the United States ** Native Americans in the United States, indigenous peoples of the United States * American, something of, from, or related to the Americas, also known as "America" ** Indigenous peoples of the Americas * American (word), for analysis and history of the meanings in various contexts Organizations * American Airlines, U.S.-based airline headquartered in Fort Worth, Texas * American Athletic Conference, an American college athletic conference * American Recordings (record label), a record label previously known as Def American * American University, in Washington, D.C. Sports teams Soccer * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Massachusetts Institute Of Technology Alumni
Massachusetts (Massachusett: ''Muhsachuweesut Massachusett_writing_systems.html" ;"title="nowiki/> məhswatʃəwiːsət.html" ;"title="Massachusett writing systems">məhswatʃəwiːsət">Massachusett writing systems">məhswatʃəwiːsət'' English: , ), officially the Commonwealth of Massachusetts, is the most populous state in the New England region of the Northeastern United States. It borders on the Atlantic Ocean and Gulf of Maine to the east, Connecticut and Rhode Island to the south, New Hampshire and Vermont to the north, and New York to the west. The state's capital and most populous city, as well as its cultural and financial center, is Boston. Massachusetts is also home to the urban core of Greater Boston, the largest metropolitan area in New England and a region profoundly influential upon American history, academia, and the research economy. Originally dependent on agriculture, fishing, and trade. Massachusetts was transformed into a manufacturing center during th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Wisconsin–Madison Alumni
A university () is an institution of higher (or tertiary) education and research which awards academic degrees in several academic disciplines. Universities typically offer both undergraduate and postgraduate programs. In the United States, the designation is reserved for colleges that have a graduate school. The word ''university'' is derived from the Latin ''universitas magistrorum et scholarium'', which roughly means "community of teachers and scholars". The first universities were created in Europe by Catholic Church monks. The University of Bologna (''Università di Bologna''), founded in 1088, is the first university in the sense of: *Being a high degree-awarding institute. *Having independence from the ecclesiastic schools, although conducted by both clergy and non-clergy. *Using the word ''universitas'' (which was coined at its foundation). *Issuing secular and non-secular degrees: grammar, rhetoric, logic, theology, canon law, notarial law.Hunt Janin: "The universi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Living People
Related categories * :Year of birth missing (living people) / :Year of birth unknown * :Date of birth missing (living people) / :Date of birth unknown * :Place of birth missing (living people) / :Place of birth unknown * :Year of death missing / :Year of death unknown * :Date of death missing / :Date of death unknown * :Place of death missing / :Place of death unknown * :Missing middle or first names See also * :Dead people * :Template:L, which generates this category or death years, and birth year and sort keys. : {{DEFAULTSORT:Living people 21st-century people People by status ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Academy Of Medicine
The National Academy of Medicine (NAM), formerly called the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Sciences (NAS), National Academy of Engineering (NAE), and the National Research Council (NRC). The National Academy of Medicine provides national and international advice on issues relating to health, medicine, health policy, and biomedical science. It aims to provide unbiased, evidence-based, and authoritative information and advice concerning health and science policy to policy-makers, professionals, leaders in every sector of society, and the public at large. Operating outside the framework of the U.S. federal government, it relies on a volunteer workforce of scientists and other experts, operating under a formal peer-review system. As a national academy, the organization ann ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Undiagnosed Diseases Network
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. UDN was established in 2014 with seven clinical sites located at medical institutions across the United States. As of 2019, twelve clinical sites are open. Shared resources include a central biorepository, sequencing core, metabolomics core, and animal research centers. History In 2008, the National Institute of Health (NIH) established the Undiagnosed Diseases Program (UDP), with the intent to provide medical care to patients with rare diseases seeking a diagnosis and to discover new pathways and mechanisms involved in disease. At the time, ongoing genomic research and advances in DNA sequencing strengthened the potential for successes in precision medicine, providing a stimulus to the objec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scientific American
''Scientific American'', informally abbreviated ''SciAm'' or sometimes ''SA'', is an American popular science magazine. Many famous scientists, including Albert Einstein and Nikola Tesla, have contributed articles to it. In print since 1845, it is the oldest continuously published magazine in the United States. ''Scientific American'' is owned by Springer Nature, which in turn is a subsidiary of Holtzbrinck Publishing Group. History ''Scientific American'' was founded by inventor and publisher Rufus Porter (painter), Rufus Porter in 1845 as a four-page weekly newspaper. The first issue of the large format newspaper was released August 28, 1845. Throughout its early years, much emphasis was placed on reports of what was going on at the United States Patent and Trademark Office, U.S. Patent Office. It also reported on a broad range of inventions including perpetual motion machines, an 1860 device for buoying vessels by Abraham Lincoln, and the universal joint which now can be found ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alkaptonuria
Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the ''HGD'' gene for the enzyme homogentisate 1,2-dioxygenase (); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form ''alkapton'' are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over 30 years old, although the dark discoloration of the urine is present from birth. Apart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), the drug nitisinone has been found to suppress homogentisic acid production, and research is ongoing as to whether it can ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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