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PubMed1999

Structural genomics: beyond the human genome project.

With access to whole genome sequences for various organisms and imminent completion of the Human Genome Project, the entire process of discovery in molecular and cellular biology is poised to change. Massively parallel measurement strategies promise to revolutionize how we study and ultimately understand the complex biochemical circuitry responsible for controlling normal development, physiologic homeostasis and disease processes. This information explosion is also providing the foundation for an important new initiative in structural biology. We are about to embark on a program of high-throughput X-ray crystallography aimed at developing a comprehensive mechanistic understanding of normal and abnormal human and microbial physiology at the molecular level. We present the rationale for creation of a structural genomics initiative, recount the efforts of ongoing structural genomics pilot studies, and detail the lofty goals, technical challenges and pitfalls facing structural biologists.

Computational Biology↗
PubMed1991

The human genome project and the Catholic Church (1)

The Cathlic Church has not made any formal statements about the Human Genome Project as such. But the present Pope, John Paul II, has commented, albeit very briefly, on various aspects of genetic manipulation. Genetic interventions which are therapeutic (e.g. gene therapy), namely, directed to the correction or amelioration of a disorder are acceptable, in principle, provided they promote the personal well being of the individual being so treated. Genetic interventions which are not therapeutic for the specific individual involved but are experimental and directed primarily to improving humans as biological entities are of dubious moral probity, but are not necessarily to be totally rejected out of hand. To be morally acceptable such genetic intervention should meet certain conditions which include due respect for the given psychological nature of each individual human being. In addition, no harm should be inflicted on the process of human generation, and its fundamental design should not be altered. Any genetic manipulation which results in, or tends to, the creation of groups with different qualities such that there would result a fresh marginalization of these people must be avoided. It has been also suggested by a few that because the Son of God took on a human nature in Jesus Christ, one may not so alter the human genome that a new distinct species would be created....

Catholicism↗
PubMed2004

Impact of Human Genome Project on treatment of frail and edentulous patients.

OBJECTIVE: Because of ongoing increases in life expectancy and deferment of edentulousness to older age, dentists are facing a different challenge to satisfy elderly denture wearers with a higher prevalence of chronic diseases. This discussion introduces the Human Genome databases as novel and powerful resources to re-examine the core problems experienced by frail and edentulous patients. BACKGROUND: Recent studies demonstrated that mandibular implant overdentures do not necessarily increase masticatory function, perception and satisfaction in denture wearers with adequate edentulous residual ridges. It has been demonstrated that the rate of edentulous residual ridge resorption significantly varies among individuals. The prognosis and cost-effectiveness of denture treatment, with or without implants, may largely depend on how the edentulous ridge is maintained. However, reliable clinical methods permitting dentists to predict the long-term health of the edentulous residual ridge are lacking. MATERIALS AND METHODS: With the completion of the Human Genome Project, the genomic sequence database from this multinational consortium will provide a unique resource to determine the genetic basis of similarity and diversity of humans. RESULTS: One base pair in every 100 to 300 base pairs of the genome sequence varies among humans, suggesting that genetic diagnosis using the single nucleotide polymorphisms (SNPs) may provide a novel opportunity to differentiate our edentulous patients. CONCLUSIONS: Future dental service for the elderly will require a personalized care paradigm, using highly sensitive diagnostic technology such as SNP genomic analysis, for recommending the treatment with greatest potential benefit.

Aged↗
PubMed1999

Family physicians' perspectives on genetics and the human genome project.

The objective of the study was to determine family physicians' attitudes and beliefs about human genetics research and the human genome project (HGP). The design of the study involved qualitative, semi-structured interviews. Primary variables of interest included family physicians' training; their attitudes about the HGP; requests for genetics counseling; and their approaches to counseling requests. The setting was a medium-sized, Midwest, US city. The participants were 16 university-affiliated, community-based family physicians. For contents analysis, we used a coding scheme to identify illustrative themes and subthemes. While most of the family physicians reported familiarity with genetics and the HGP, and experiences with counseling requests, nearly all (15) reported little training in genetics counseling. Four major themes were identified: 1) impact on clinical care; 2) educational issues relevant to genetics and the HGP; 3) ethical concerns; and 4) family medicine responsibilities. These family physicians do not perceive genetics as having a substantial impact on their practice, but do expect major clinical changes in the future. Many feel there have been inadequate educational opportunities to learn about genetics, and some indicate reluctance to invest in self-education until genetic problems become more clinically relevant. These practitioners envision a role for family medicine the specialty to shape priorities in genetics research.

Attitude of Health Personnel↗
PubMed1997

The Human Genome Project: view from the National Institutes of Health.

Because nearly all human disease is influenced by heritable alterations in the structure or function of genes, the issues and principles of medical genetics are coming to bear across medical disciplines. This "genetics revolution" is driven by the rapid pace in which scientists are identifying and isolating genes linked to human disease and is a direct outcome of the Human Genome Project. DNA tests are proving to be the most immediate commercial application of gene discovery, and the one seen most frequently by clinicians. To handle the growing populations who will seek genetic technologies as part of their health care, services must be expanded to help guide patients through the testing process so they make informed decisions about genetic testing. Care-givers will need to know not only about the medical benefits and risks of genetic technologies, but also about the psychosocial and legal implications of these technologies in the public arena. Until these issues are resolved, the technical ability to perform tests for DNA mutations should not be confused with a mandate to offer them. Safeguards must be in place to ensure that these tests are used wisely, maximizing their potential benefits to patients and minimizing their potential risks.

Attitude to Health↗
PubMed1998

Introduction to the post-Human Genome Project era, a target for interactions between polygenic and/or multiphenotypical components in cancer control in South America.

Epidemiological studies have suggested that the propensity to develop malignancy involves a complex mix of genetic and environmental determinants, however both older and innovative techniques display unresolved fundamental questions regarding etiology. Current barriers to achieving the potential benefit from this understanding are: 1) incomplete background on the various environmental and genetic factors involved in the carcinogenesis mechanism; 2) difficulties in accurately differentiating specific molecular subtypes and measuring the effective cellular exposure dose; and 3) difficulties in determining the multifactorial interaction between genetic and environmental factors. To extrapolate Human Genome Project research findings to the Post-Human Genome Project era, South America provides a large population and large-pedigree families, thus including genetically heterogeneous and less heterogeneous groups. An initial strategy might be to trace high risk populations and the respective exposures to which they are susceptible, such as: 1) migration, identifying rural migrant populations; 2) inherent susceptibility, studying "long term homogeneous populations" or large families living in similar rural environments; and 3) dissection of gene-environmental interaction

Environmental Exposure↗
PubMed2005

Untying the Gordian knot of creation: metaphors for the Human Genome Project in Greek newspapers.

This article studies the metaphorical expressions used by newspapers to present the near completion of the Human Genome Project (HGP) to the Greek public in the year 2000. The analysis, based on cognitive metaphor theory, deals with the most frequent or captivating metaphors used to refer to the human genome, which give rise to both conventional and novel expressions. The majority of creative metaphorical expressions participate in the discourse of hope and promise propagated by the Greek media in an attempt to present the HGP and its outcome in a favorable light. Instances of the competing discourse of fear and danger are much rarer but can also be found in creative metaphorical expressions. Metaphors pertaining to the Greek culture or to ancient Greek mythology tend to carry a special rhetorical force. However, it will be shown that the Greek press strategically used most of the metaphors that circulated globally at the time, not only culture specific ones.

Chromosome Mapping↗
PubMed1991

Should ethical concerns regulate science? The European experience with the human genome project: a report from Denmark.

... The allocation of resources can indirectly control science by defining areas undesirable for research from the point of view of society. In the United States federal funds are not available for research on human embryos. The European experience represents a new approach to control of scientific research. The project is neither prohibited nor accepted in accordance with certain ethical rules, but is followed throughout the project. This new approach originates from the complexity of the human genome project and its unpredictable consequences for man.

Advisory Committees↗
PubMed1994

The Human Genome Project: implications for nursing.

The United States has set as a national objective the mapping and sequencing of the entire human genome. Nurses must stay informed about discoveries generated by the Human Genome Project so they can apply this knowledge in nursing practice.

Chromosome Mapping↗
PubMed1995

How is the Human Genome Project doing, and what have we learned so far?

In this paper, we describe the accomplishments of the initial phase of the Human Genome Project, with particular attention to the progress made toward achieving the defined goals for constructing genetic and physical maps of the human genome and determining the sequence of human DNA, identifying the complete set of human genes, and analyzing the need for adequate policies for using the information about human genetics in ways that maximize the benefits for individuals and society.

Base Sequence↗
PubMed2003

[The national GTH haemophilia registry as database within the scope of the German human genome project].

The Committee of Haemophilia of the GTH has established a central registry for all German centers treating patients with haemophilia. The intention was to establish a suitable system for collecting and analyzing epidemiological data relevant to bleeding disorders. The registry provides the database within the scope of the German Human-Genome-Project. The set goal is the complete molecular characterization of the genetic mutations on chromosome X of haemophilia A patients in Germany and subsequent correlation with the phenotype. An electronic network is applied for communication. A Java-application was developed for online electronic data acquirement by the participating centers. Offline data entry and sending encrypted data carriers is possible, too. A high level of security is assured by personalized access. Data are anonymized and scrambled by secure encoding. The concept was confirmed by the official data security offices. A considerable improvement for the epidemiological sciences and a better basis on therapy for patients with bleeding disorders is expected. Furthermore the registry is available for other scientific projects.

Chromosomes, Human, X↗
PubMed2000

An evaluation of the Ethical, Legal and Social Implications program of the U.S. Human Genome Project.

The Ethical, Legal, and Social Implications (ELSI) program is an in-house evaluation program for the United States Human Genome Project. Understanding the ethical and moral implications of genetic information and technology is crucial towards ensuring the proper use of genetic data. The ELSI programs have had a positive influence in understanding problematic areas surrounding the HGP by acting as a center for discussion for many bioethicists and scientists. However, ELSI is often too passive and does not provide enough practical guidance to the public on the complex implications of the HGP. As it stands now, there is room for major improvement such as increased cooperation between ELSI and non-government organizations. NGO's would serve as bridges between ELSI and the public, and a collaboration would enable in-depth probing and more comprehensive analysis of issues of public concern.

Consumer Organizations↗