Primer on Medical Genomics Part I: History of Genetics and Sequencing of the Human Genome

2002 ◽  
Vol 77 (8) ◽  
pp. 773-782 ◽  
Author(s):  
Cindy Pham Lorentz ◽  
Eric D. Wieben ◽  
Ayalew Tefferi ◽  
David A.H. Whiteman ◽  
Gordon W. Dewald
Keyword(s):  
Human Genome ◽  
History Of Genetics ◽  
Medical Genomics ◽  
History Of

scholarly journals Grassroots Marketing in a Global Era: More Lessons from BiDil

2011 ◽  
Vol 39 (1) ◽  
pp. 79-90 ◽  
Author(s):  
Britt M. Rusert ◽  
Charmaine D. M. Royal
Keyword(s):  
Human Genome ◽  
Race And Ethnicity ◽  
Genome Project ◽  
Indigenous Populations ◽  
Social Scientists ◽  
Global Era ◽  
Indigenous Groups ◽  
History Of ◽  
Genetic Technologies ◽  
Research Populations

Since the first phase of the formal effort to sequence the human genome, geneticists, social scientists and other scholars of race and ethnicity have warned that new genetic technologies and knowledge could have negative social effects, from biologizing racial and ethnic categories to the emergence of dangerous forms of genetic discrimination. Early on in the Human Genome Project (HGP), population geneticists like Luigi Luca Cavalli-Sforza enthusiastically advocated for the collection of DNA samples from global indigenous populations in order to track the history of human ancestry, migration, and languages, while social scientists like Troy Duster insisted that the new genetics was in danger of ushering in insidious practices of eugenics. The Human Genome Diversity Project's 1991 proposal to archive human genetic variation around the world quickly came under intense scrutiny by indigenous peoples and advocacy groups who worried that such measures could exploit indigenous groups as research populations and even resurrect racist taxonomies from the nineteenth century.

6. Genes

2019 ◽  
pp. 83-100
Author(s):  
Samir Okasha
Keyword(s):  
Molecular Genetics ◽  
Precise Definition ◽  
History Of Genetics ◽  
History Of ◽  
Gregor Mendel ◽  
The 1950S ◽  
Classical Genetics

There is no satisfactory one-line answer to the question ‘what exactly is a gene?’. The reasons why a precise definition is elusive are particularly interesting, and raise a number of philosophical subtleties. ‘Genes’ delves briefly into the history of genetics in order to understand them. It first looks at the work of Gregor Mendel in the 1860s and then the era of classical genetics in the 1920s and 1930s. It then moves on to molecular genetics, which came to fruition in the 1950s. How does the gene of Mendelian or classical genetics relate to the gene of molecular genetics? This question has long occupied philosophers of biology.

scholarly journals Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population

Genes ◽  
2019 ◽  
Vol 10 (5) ◽  
pp. 352 ◽  
Author(s):  
Karen H. Miga
Keyword(s):  
Human Genome ◽  
Satellite Dna ◽  
Human Population ◽  
Sequence Variation ◽  
Tandem Repeats ◽  
Association Studies ◽  
Unmet Need ◽  
Satellite Dnas ◽  
Dna Variation ◽  
Medical Genomics

The central goal of medical genomics is to understand the inherited basis of sequence variation that underlies human physiology, evolution, and disease. Functional association studies currently ignore millions of bases that span each centromeric region and acrocentric short arm. These regions are enriched in long arrays of tandem repeats, or satellite DNAs, that are known to vary extensively in copy number and repeat structure in the human population. Satellite sequence variation in the human genome is often so large that it is detected cytogenetically, yet due to the lack of a reference assembly and informatics tools to measure this variability, contemporary high-resolution disease association studies are unable to detect causal variants in these regions. Nevertheless, recently uncovered associations between satellite DNA variation and human disease support that these regions present a substantial and biologically important fraction of human sequence variation. Therefore, there is a pressing and unmet need to detect and incorporate this uncharacterized sequence variation into broad studies of human evolution and medical genomics. Here I discuss the current knowledge of satellite DNA variation in the human genome, focusing on centromeric satellites and their potential implications for disease.

A History of Genetics. A. H. Sturtevant

Isis ◽  
1966 ◽  
Vol 57 (2) ◽  
pp. 278-279
Author(s):  
Conway Zirkle
Keyword(s):  
History Of Genetics ◽  
History Of

Assessing the history and value of Human Genome Sciences

2013 ◽  
Vol 19 (4) ◽  
Author(s):  
Laura M. McNamee ◽  
Fred D Ledley
Keyword(s):  
Human Genome ◽  
Business Plan ◽  
Market Potential ◽  
Translational Science ◽  
Capital Investments ◽  
Present Value ◽  
Total Capital ◽  
History Of ◽  
Highly Correlated ◽  
Over Time

Human Genome Science (HGS) aspired to dominate the emergent field of genomics by discovering expressed gene sequences and developing therapeutic and diagnostic products based on proprietary genes. While HGS’ accomplishments fell short of their own lofty expectations, by the time HGS was acquired by GlaxoSmithKline, the company had extensive intellectual property and had launched a product with >$1 billion market potential. Nevertheless, HGS’ acquisition price was less than the total capital investments in the company. This work examines HGS’ history and accomplishments in the context of the business plan described by the company at their IPO. We focus specifically on the company’s valuation over time, which was highly correlated with general market indices, but negatively correlated with metrics of technical or clinical progress. The history of HGS points to the challenge of accounting for the value created by a science-based business plan. Earnings-based metrics, present value calculations, and “fair value” assessments did not account for HGS’ progress in executing their stated business plan. This work highlights the critical need for accounting practices that credit value to the progress of translational science and enable investors to profit from such investments.

A History of Genetics

JAMA ◽  
1966 ◽  
Vol 197 (8) ◽  
pp. 667
Author(s):  
James E. Bowman
Keyword(s):  
History Of Genetics ◽  
History Of
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