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Results for “Human Genome Project”

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PubMed2001

Fruits of human genome project and private venture, and their impact on life science.

A small knowledge base was created by organizing the Human Genome Project (HGP) and its related issues in "Science" magazines between 1996 and 2000. This base revealed the stunning achievement of HGP and a private venture and its impact on today's biology and life science. In the mid-1990, they encouraged the development of advanced high throughput automated DNA sequencers and the technologies that can analyse all genes at once in a systematic fashion. Using these technologies, they completed the genome sequence of human and various other organisms. These fruits opened the door to comparative genomics, functional genomics, the interdisprinary field between computer and biology, and proteomics. They have caused a shift in biological investigation from studying single genes or proteins to studying all genes or proteins at once, and causing revolutional changes in traditional biology, drug discovery and therapy. They have expanded the range of potential drug targets and have facilitated a shift in drug discovery programs toward rational target-based strategies. They have spawned pharmacogenomics that could give rise to a new generation of highly effective drugs that treat causes, not just symptoms. They should also cause a migration from the traditional medications that are safe and effective for every members of the population to personalized medicine and personalized therapy.

Biological Science Disciplines↗
PubMed1998

Joe Doupe Young Investigators Award. The Human Genome Project: tools for the identification of disease genes.

In the first phase of the Human Genome Project, new and ingenious tools have made it possible to map all the individual nucleotides that make up the 23 human chromosomes. During the next 5 years, the 3 billion DNA bases and the 50,000 to 100,000 genes will be sequenced. This knowledge will have widespread applications in biology, medicine and industry. The genetic research community currently has access to abundant DNA markers, detailed chromosome maps, extensive online databases as well as rapid DNA analysis technologies, all of which can be used to identify disease-causing genetic mutations. In the next 15 to 20 years, the Human Genome Project is expected to identify defective genes causing thousands of hereditary diseases, including common diseases such as heart disease, diabetes, asthma and cancer. The hope is that these discoveries will lead to better understanding of the causes of these diseases, and to better approaches to diagnosis, prevention and treatment of human genetic disorders.

Base Sequence↗
PubMed2001

Molecular medicine: a primer for clinicians. Part XIII: The human genome project and the practice of medicine.

Publication earlier this year of the sequence of the human genome marked the end of one era of modern biology and initiated the beginning of another. This paper in our ongoing Molecular Medicine series briefly summarizes the history of the Human Genome Project, describes some of the major features of the structure and organization of the human genome and discusses some of the ways knowledge of the complete human genome might be clinically applicable in the near future.

Human Genome Project↗
PubMed1998

Geneticizing disability: the Human Genome Project and the commodification of self.

This article explores the potential impact upon people with disability of some of the technological information being uncovered by the Human Genome Project. While the project has been promoted as promising positive benefits to society, its effect, in our present values climate, is potentially damaging. While we can map impairment, we cannot, as yet, cure it. And, in a society which embraces values such as utilitarianism and economic rationalism, we are choosing more and more to eliminate rather than care. We are seeing a conceptual transformation--the geneticization of self--which has enormous implications for the lives of people with disability. The author argues that scientific endeavor, which has been constructed as occurring within a culture of impartiality and empiricism, actually operates within an uncontested value base which devalues disability. She concludes that the Human Genome Project needs to be reframed within a broadened ethical framework of inclusion.

Attitude to Health↗
PubMed2001

The human genome project: implications for the endocrinologist.

The sequencing of the human genome is a major achievement of our time. This article reviews the process and current status of the working draft sequence, ways to predict genes and assign function, and conclusions for human biology. Gene density is uneven and related to chromosome banding patterns, and the estimate of approximately 30,000 genes is lower than expected. Genetic maps for men and women differ from each other and from the physical map. Single nucleotide polymorphisms occur at an average spacing of 1 kb. Human populations are 99.99% identical, and most sequences are shared between people from different continents. To illustrate the tools for accessing the human genome sequence, searches were performed for genes encoding three categories of growth-related proteins, insulin-like growth factor-I (IGF-I) receptor, IGF-binding proteins and growth hormone receptor. The results revealed novel details about their genomic organization and new predicted transcripts. Impacts on medicine are promised in the fields of diagnostics (development of new tests), therapeutics (identification of new potential drug targets) and pharmacogenomics (streamlining of drug discovery and personalized medicine). Associated ethical, legal and social implications and controversies include genetic determinism, informed consent, privacy and confidentiality, ownership of genetic information in the biotechnology marketplace, and access to genetic healthcare.

Endocrinology↗
PubMed2001

Impact of human genome project on medical practice.

The sequence of bases on all 23 pairs of human chromosomes has been nearly unravelled. Nearly 3.1 billion nucleotide bases were sequenced using the clone based approach of Human Genome Project Consortium and the shotgun approach of Celera. There appear to be about 30,000 genes, which are however more complex. Human genes seem to have been transferred over evolution from bacteria. Further progress is likely in identifying genes and their function, in development of DNA chips or arrays to identify genes, expanded field of protomics or the study of detailed structure and function of proteins. Pharmacogenomics is possible to develop designer drugs depending on the individuals genetic make-up. Projected drawbacks from availability of genetic data of individuals include loss of privacy, genetic determinism and the risk of high insurance premia, conflict about patenting and ownership.

Forecasting↗
PubMed2004

The human genome project and the discovery of genetic determinants of cancer susceptibility.

The Human Genome Project has recently provided a great deal of information on the sequence that comprises the human genome. We are now in the process of structuring and deciphering the 3 x 10(9) base sequence in order to gain insights into its functional role. Several efforts are focusing on the search for DNA sequence variations underlying common/complex diseases that constitute a real burden in terms of public health measures. As expected, the genetic architecture of these complex traits, shows tremendous complexity, and the discovery and characterisation of susceptibility alleles constitute a real challenge for the geneticist. Conceptual and experimental genetic approaches aimed at dissecting the molecular features of susceptibility genes, in particular those predisposing to cancer, are outlined and discussed in this review.

Animals↗