Mark Skolnick
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Mark Skolnick
Mark Henry Skolnick (born January 28, 1946) is an American geneticist and the founder of Myriad Genetics, Myriad Genetics Inc, an American molecular diagnostic company based in Salt Lake City, Utah. His highest cited paper is "Construction of a genetic linkage map in man using restriction fragment length polymorphisms" at 9,898 times, according to Google Scholar. Early life and education He was born in 1946 in Temple, Texas and earned his B.A. at University of California at Berkeley in 1968 and a Ph.D at Stanford University in 1975. His father taught a clinical post graduate course in psychoanalysis at Stanford, where Skolnick was introduced to the bright Stanford academics at a very young age. “It got put into my head pretty early on that medicine was interesting,” says Skolnick, “but it might be more interesting to be an academic than a doctor. I’m not sure I would have wanted to just focus on seeing ill people.”Davies, K., White, M. (1996). Breakthrough, The Race to F ...
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Geneticist
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as ''Drosophila'', ''C. elegans'', zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis. Education Geneticists participate in courses from many are ...
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Stanford University Alumni
Stanford University, officially Leland Stanford Junior University, is a private research university in Stanford, California. The campus occupies , among the largest in the United States, and enrolls over 17,000 students. Stanford is considered among the most prestigious universities in the world. Stanford was founded in 1885 by Leland and Jane Stanford in memory of their only child, Leland Stanford Jr., who had died of typhoid fever at age 15 the previous year. Leland Stanford was a U.S. senator and former governor of California who made his fortune as a railroad tycoon. The school admitted its first students on October 1, 1891, as a coeducational and non-denominational institution. Stanford University struggled financially after the death of Leland Stanford in 1893 and again after much of the campus was damaged by the 1906 San Francisco earthquake. Following World War II, provost of Stanford Frederick Terman inspired and supported faculty and graduates' entrepreneuriali ...
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University Of Utah Faculty
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 university i ...
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University Of California, Berkeley 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 university ...
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People From Temple, Texas
A person ( : people) is a being that has certain capacities or attributes such as reason, morality, consciousness or self-consciousness, and being a part of a culturally established form of social relations such as kinship, ownership of property, or legal responsibility. The defining features of personhood and, consequently, what makes a person count as a person, differ widely among cultures and contexts. In addition to the question of personhood, of what makes a being count as a person to begin with, there are further questions about personal identity and self: both about what makes any particular person that particular person instead of another, and about what makes a person at one time the same person as they were or will be at another time despite any intervening changes. The plural form "people" is often used to refer to an entire nation or ethnic group (as in "a people"), and this was the original meaning of the word; it subsequently acquired its use as a plural form of per ...
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Chromosome 17 (human)
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells. Chromosome 17 contains the Homeobox B gene cluster. Genes Number of genes The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 17. For complete list, see the link in the infobox on the right. The following are some ...
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American Medical Informatics Association
The American Medical Informatics Association (AMIA), is an American non-profit organization dedicated to the development and application of biomedical and health informatics in the support of patient care, teaching, research, and health care administration. History AMIA is the official United States representative to the International Medical Informatics Association. It has grown to more than 5,000 members from 42 countries worldwide. Together, these members represent all basic, applied, and clinical interests in health care information technology. It publishes the ''Journal of the American Medical Informatics Association''. AMIA is a professional scientific association that was formed by the merger of three organizations in 1988: the American Association for Medical Systems and Informatics (AAMSI); the American College of Medical Informatics (ACMI); and the Symposium on Computer Applications in Medical Care (SCAMC). Founding AMIA was founded in 1989 by the merger of three ...
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Fellow
A fellow is a concept whose exact meaning depends on context. In learned or professional societies, it refers to a privileged member who is specially elected in recognition of their work and achievements. Within the context of higher educational institutions, a fellow can be a member of a highly ranked group of teachers at a particular college or university or a member of the governing body in some universities (such as the Fellows of Harvard College); it can also be a specially selected postgraduate student who has been appointed to a post (called a fellowship) granting a stipend, research facilities and other privileges for a fixed period (usually one year or more) in order to undertake some advanced study or research, often in return for teaching services. In the context of research and development-intensive large companies or corporations, the title "fellow" is sometimes given to a small number of senior scientists and engineers. In the context of medical education in No ...
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Alport Syndrome
Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses. The disorder was first identified in a British family by the physician Cecil A. Alport in 1927. Alport syndrome once also had the label hereditary nephritis, but this is misleading as there are many other causes of hereditary kidney disease and 'nephritis'. Alport syndrome is caused by an inherited defect in type IV collagen—a structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc. ...
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Gene Mapping
Gene mapping describes the methods used to identify the locus of a gene and the distances between genes. Gene mapping can also describe the distances between different sites within a gene. The essence of all genome mapping is to place a collection of molecular markers onto their respective positions on the genome. Molecular markers come in all forms. Genes can be viewed as one special type of genetic markers in the construction of genome maps, and mapped the same way as any other markers. In some areas of study, gene mapping contributes to the creation of new recombinants within an organism. Genetic vs physical There are two distinctive types of "maps" used in the field of genome mapping: genetic maps and physical maps. While both maps are a collection of genetic markers and gene loci, genetic maps' distances are based on the genetic linkage information, while physical maps use actual physical distances usually measured in number of base pairs. While the physical map cou ...
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Demography
Demography () is the statistics, statistical study of populations, especially human beings. Demographic analysis examines and measures the dimensions and Population dynamics, dynamics of populations; it can cover whole societies or groups defined by criteria such as education, nationality, religion, and ethnicity. Educational institutions usually treat demography as a field of sociology, though there are a number of independent demography departments. These methods have primarily been developed to study human populations, but are extended to a variety of areas where researchers want to know how populations of Social actions, social actors can change across time through processes of birth, death, and Human migration, migration. In the context of human biological populations, demographic analysis uses Public records, administrative records to develop an independent Approximation, estimate of the population. Demographic analysis estimates are often considered a reliable stan ...
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