Kári Stefánsson
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Kári Stefánsson
Kári Stefánsson (or Kari Stefansson; born 6 April 1949) is an Icelandic neurologist and founder and CEO of Reykjavik-based biopharmaceutical company deCODE genetics. In Iceland he has pioneered the use of population-scale genetics to understand variation in the sequence of the human genome. His work has focused on how genomic diversity is generated and on the discovery of sequence variants impacting susceptibility to common diseases. This population approach has served as a model for national genome projects around the world and contributed to the realization of several aspects of precision medicine. Biography Kari Stefansson was born in 1949 in Reykjavik, Iceland. He was the second youngest of the five children of Sólveig Halldórsdóttir and Stefán Jónsson, a radio personality, writer and democratic socialist member of parliament. He completed his secondary education at Reykjavik Junior College and received his M.D. in 1976 and his Dr. med. in 1986 from the Universi ...
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Reykjavík
Reykjavík ( ; ) is the capital and largest city of Iceland. It is located in southwestern Iceland, on the southern shore of Faxaflói bay. Its latitude is 64°08' N, making it the world's northernmost capital of a sovereign state. With a population of around 131,136 (and 233,034 in the Capital Region), it is the centre of Iceland's cultural, economic, and governmental activity, and is a popular tourist destination. Reykjavík is believed to be the location of the first permanent settlement in Iceland, which, according to Landnámabók, was established by Ingólfr Arnarson in 874 CE. Until the 18th century, there was no urban development in the city location. The city was officially founded in 1786 as a trading town and grew steadily over the following decades, as it transformed into a regional and later national centre of commerce, population, and governmental activities. It is among the cleanest, greenest, and safest cities in the world. History According to lege ...
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Landspítali
The Landspítali – The National University Hospital of Iceland ( is, Landspítali – Háskólasjúkrahús) offers a wide range of clinical services in outpatient clinics, day patient units, inpatient wards, clinical laboratories and other divisions. Landspítalinn also operates the psychiatric hospital Kleppur. History The original Landspítali began operations on 20 December 1930. Ideas for a hospital that served the whole country was not new; in 1863 Jón Hjaltalín, the then Director of Health, proposed a bill that would establish such a hospital, but the bill was not voted on. During the period from 1863 to 1930 several hospitals operated in Reykjavík Reykjavík ( ; ) is the capital and largest city of Iceland. It is located in southwestern Iceland, on the southern shore of Faxaflói bay. Its latitude is 64°08' N, making it the world's northernmost capital of a sovereign state. With a po .... The founding of Landspítali was the product of a long, hard struggle ...
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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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Kathleen Merikangas
Kathleen Ries Merikangas is the Chief of the Genetic Epidemiology Research Branch in the Intramural Research Program at the National Institute of Mental Health (NIMH) and an adjunct professor of epidemiology at the Johns Hopkins Bloomberg School of Public Health. She has published more than 300 papers, and is best known for her work in adolescent mental disorders. Early life and education Merikangas was born Kathleen Ries to F. William and Dorothy Campbell Ries. Merikangas earned her bachelor's degree ''Latin honors, summa cum laude'' in experimental psychology and music from University of Notre Dame in 1973. She received her master's degree from University of Pittsburgh School of Medicine, which was sponsored by National Institute on Alcohol Abuse and Alcoholism. During this time, she did her clinical training and internship at the Western Psychiatric Institute and Clinic at the University of Pittsburgh School of Medicine. She earned her Ph.D. in chronic disease epidemiology fr ...
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Identity By Descent
A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals. DNA segments that are IBD are IBS per definition, but segments that are not IBD can still be IBS due to the same mutations in different individuals or recombinations that do not alter the segment. Theory All individuals in a finite population are related if traced back long enough and will, therefore, share segments of their genomes IBD. During meiosis segments of IBD are broken up by recombination. Therefore, the expected length of an IBD segment depends on the number of generations since the most recent common ancestor at the locus of the segment. The length of IBD segments that result from a common ancestor ''n'' generations in ...
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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 remains the world's largest collaborative biological project. Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared essentially complete on April 14, 2003, but included only about 85% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022. Funding came from the United States 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 ...
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BusinessWeek
''Bloomberg Businessweek'', previously known as ''BusinessWeek'', is an American weekly business magazine published fifty times a year. Since 2009, the magazine is owned by New York City-based Bloomberg L.P. The magazine debuted in New York City in September 1929. Bloomberg Businessweek business magazines are located in the Bloomberg Tower, 731 Lexington Avenue, Manhattan in New York City and market magazines are located in the Citigroup Center, 153 East 53rd Street between Lexington and Third Avenue, Manhattan in New York City. History ''Businessweek'' was first published based in New York City in September 1929, weeks before the stock market crash of 1929. The magazine provided information and opinions on what was happening in the business world at the time. Early sections of the magazine included marketing, labor, finance, management and Washington Outlook, which made ''Businessweek'' one of the first publications to cover national political issues that directly impacted the ...
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Multiple Sclerosis
Multiple (cerebral) sclerosis (MS), also known as encephalomyelitis disseminata or disseminated sclerosis, is the most common demyelinating disease, in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts the ability of parts of the nervous system to transmit signals, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems. Specific symptoms can include double vision, blindness in one eye, muscle weakness, and trouble with sensation or coordination. MS takes several forms, with new symptoms either occurring in isolated attacks (relapsing forms) or building up over time (progressive forms). In the relapsing forms of MS, between attacks, symptoms may disappear completely, although some permanent neurological problems often remain, especially as the disease advances. While the cause is unclear, the underlying mechanism is thought to be either destruction by the immune system ...
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Boston
Boston (), officially the City of Boston, is the state capital and most populous city of the Commonwealth of Massachusetts, as well as the cultural and financial center of the New England region of the United States. It is the 24th- most populous city in the country. The city boundaries encompass an area of about and a population of 675,647 as of 2020. It is the seat of Suffolk County (although the county government was disbanded on July 1, 1999). The city is the economic and cultural anchor of a substantially larger metropolitan area known as Greater Boston, a metropolitan statistical area (MSA) home to a census-estimated 4.8 million people in 2016 and ranking as the tenth-largest MSA in the country. A broader combined statistical area (CSA), generally corresponding to the commuting area and including Providence, Rhode Island, is home to approximately 8.2 million people, making it the sixth most populous in the United States. Boston is one of the oldest ...
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Beth Israel Deaconess Medical Center
Beth Israel Deaconess Medical Center (BIDMC) in Boston, Massachusetts is a teaching hospital of Harvard Medical School. It was formed out of the 1996 merger of Beth Israel Hospital (founded in 1916) and New England Deaconess Hospital (founded in 1896). Among independent teaching hospitals, Beth Israel Deaconess Medical Center consistently ranks in the top three recipients of biomedical research funding from the National Institutes of Health. Research funding totals nearly $200 million annually. BIDMC researchers run more than 850 active sponsored projects and 200 clinical trials. The Harvard-Thorndike General Clinical Research Center, the oldest clinical research laboratory in the United States, has been located on this site since 1973. Overview BIDMC is one of the largest hospitals in New England, is affiliated with Joslin Diabetes Center and is a research partner of Dana-Farber/Harvard Cancer Center, the largest cancer institution in the country. The hospital is part of the ...
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Harvard University
Harvard University is a private Ivy League research university in Cambridge, Massachusetts. Founded in 1636 as Harvard College and named for its first benefactor, the Puritan clergyman John Harvard, it is the oldest institution of higher learning in the United States and one of the most prestigious and highly ranked universities in the world. The university is composed of ten academic faculties plus Harvard Radcliffe Institute. The Faculty of Arts and Sciences offers study in a wide range of undergraduate and graduate academic disciplines, and other faculties offer only graduate degrees, including professional degrees. Harvard has three main campuses: the Cambridge campus centered on Harvard Yard; an adjoining campus immediately across Charles River in the Allston neighborhood of Boston; and the medical campus in Boston's Longwood Medical Area. Harvard's endowment is valued at $50.9 billion, making it the wealthiest academic institution in the world. Endowment inco ...
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Neuropathology
Neuropathology is the study of disease of nervous system tissue, usually in the form of either small surgical biopsies or whole-body autopsies. Neuropathologists usually work in a department of anatomic pathology, but work closely with the clinical disciplines of neurology, and neurosurgery, which often depend on neuropathology for a diagnosis. Neuropathology also relates to forensic pathology because brain disease or brain injury can be related to cause of death. Neuropathology should not be confused with neuropathy, which refers to disorders of the nerves themselves (usually in the peripheral nervous system) rather than the tissues. In neuropathology, the branches of the specializations of nervous system as well as the tissues come together into one field of study. Methodology The work of the neuropathologist consists largely of examining autopsy or biopsy tissue from the brain and spinal cord to aid in diagnosis of disease. Tissues are also observed through the eyes, muscles, ...
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