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PubMedDate not supplied

The Human Genome Project in the dock.

From a scientific viewpoint, the Human Genome Project is actually not in the dock, nor even under reasonable suspicion of wrongdoing. Overwhelmingly, it will prove of benefit to humanity. However, from legal, ethical and other societal points of view, there are many problems already being considered by bioethicists, philosophers, religious experts, lawyers and others in dialogue with scientists.

Confidentiality↗
PubMed2001

The Human Genome Project. Revealing the shared inheritance of all humankind.

The information derived from the Human Genome Project, an international effort to decode the information embedded in the human genome, will revolutionize the practice of medicine in the 21st century by providing the tools to determine the hereditary component of virtually all diseases. This will lead to improved approaches to predict increased risk, provide early detection, and promote more effective treatment strategies. To be ultimately successful, these improvements in research and health care must reach everyone. This success will depend on participation from a broad spectrum of the population. such as scientists, clinicians, research participants, and active discussants, in deliberations of ethics and public policy. The Human Genome Project has helped to inform us about how remarkably similar all human beings are--99.9% at the DNA level. Those who wish to draw precise racial boundaries around certain groups will not be able to use science as a legitimate justification. However, studying the 0.1% of human genetic variations, particularly the distribution of single nucleotide polymorphisms, between affected and nonaffected individuals will significantly inform biomedical researchers about the genetic contributions to complex diseases such as cancer, diabetes, and mental illness. We must all work together to ensure that the risks of such research are considered carefully and that the medical benefits are made available to all.

DNA↗
PubMedDate not supplied

The Human Genome Project: implications for the treatment of musculoskeletal disease.

The ultimate goal of the Human Genome Project is the determination of the molecular sequence of the entire human chromosomal complement. Realization of this goal will include characterization of all the genes that cause or predispose to disease, which will most certainly lead to the development of powerful new tools for diagnosis, prevention, and treatment in all medical fields, including orthopaedics. The authors review the fundamentals of human genetics and gene mapping, summarize the progress of the Human Genome Project thus far, and discuss the implications of this research as it relates to the treatment of musculoskeletal diseases.

Chromosome Mapping↗
PubMed1994

Human genome project and mutation research: a mating that needs to happen.

The Human Genome Project has been in existence for several years. It has created a wealth of resources in the form of genetic and physical maps, innovative technologies, instrumentation, and information. It is driving the future of gene discovery, as well as disease diagnosis, amelioration, and treatment. Despite the successes in the project, the mutation research community has, in general, been slow to capitalize on the infrastructure and resources that have been created. This should not continue as there are now available some key technologies and resources that are ripe for exploitation.

Chromosome Mapping↗
PubMed2000

[The human genome project as a scientific background of preventive medicine].

Conspicuous achievements in the Human Genome Project have already found spectacular implementation in both basic research and practice. The Human Genome Diversity, Functional Genomics, and numerous Social Programmes are under way and they are rapidly expanding the scientific area induced by the Human Genome Project. Its practical implication is mainly confined to molecular medicine and to its quickly growing area Predictive (Preventive) Medicine. The paper briefly considers the existing concepts of molecular genetic tests of "predisposition" genes, including such groups as "environmental" genes and "trigger"-genes to detect subjects highly susceptible to different common multifactorial diseases and the expediency for testing the genes whose mutations cause diseases showing their manifestations at the late stage. Evidence is provided for that there is a progressive increase in population, family, and personal predisposition gene DNA databanks. There is need for close interaction between researchers and all strata of society, including the clergy, governments, political parties, etc. in order to optimize perception of scientific achievements of modern genetics and their effective used for the welfare of mankind.

DNA↗
PubMed1991

The Human Genome Project: a paradigm for information management in the life sciences.

The major product of the Human Genome Project will be a series of linked data sets containing the genetic and physical location of all genes on each chromosome, plus the complete nucleotide sequence of the genome for humans and several model organisms. Here we summarize the current status of attempts to collect, analyze, and distribute this information in an electronically accessible form. Although formidable problems remain to be solved in the acquisition and adequate representation of the genetic, physical, and biological data, this project is a model for the rapid dissemination of genome and related information in biology and medicine.

Base Sequence↗
PubMedDate not supplied

The Human Genome Project: how do we protect Australians?

It is the moon landing of the nineties: the ambitious Human Genome Project--identifying the up to 100,000 genes that make up human DNA and the sequences of the three billion base-pairs that comprise the human genome. However, unlike the moon landing, the effects of the genome project will have a fundamental impact on the way we see ourselves and each other.

Australia↗
PubMed2001

Segmental duplications: organization and impact within the current human genome project assembly.

Segmental duplications play fundamental roles in both genomic disease and gene evolution. To understand their organization within the human genome, we have developed the computational tools and methods necessary to detect identity between long stretches of genomic sequence despite the presence of high copy repeats and large insertion-deletions. Here we present our analysis of the most recent genome assembly (January 2001) in which we focus on the global organization of these segments and the role they play in the whole-genome assembly process. Initially, we considered only large recent duplication events that fell well-below levels of draft sequencing error (alignments 90%-98% similar and > or =1 kb in length). Duplications (90%-98%; > or =1 kb) comprise 3.6% of all human sequence. These duplications show clustering and up to 10-fold enrichment within pericentromeric and subtelomeric regions. In terms of assembly, duplicated sequences were found to be over-represented in unordered and unassigned contigs indicating that duplicated sequences are difficult to assign to their proper position. To assess coverage of these regions within the genome, we selected BACs containing interchromosomal duplications and characterized their duplication pattern by FISH. Only 47% (106/224) of chromosomes positive by FISH had a corresponding chromosomal position by comparison. We present data that indicate that this is attributable to misassembly, misassignment, and/or decreased sequencing coverage within duplicated regions. Surprisingly, if we consider putative duplications >98% identity, we identify 10.6% (286 Mb) of the current assembly as paralogous. The majority of these alignments, we believe, represent unmerged overlaps within unique regions. Taken together the above data indicate that segmental duplications represent a significant impediment to accurate human genome assembly, requiring the development of specialized techniques to finish these exceptional regions of the genome. The identification and characterization of these highly duplicated regions represents an important step in the complete sequencing of a human reference genome.

Base Sequence↗
PubMed2001

The impact of the Human Genome Project on medical genetics.

The near completion of the Human Genome Project stands as a remarkable achievement, with enormous implications for both science and society. For scientists, it is the first step in a complex process that will lead to important advances in the diagnosis and treatment of many diseases. Society, meanwhile, must prevent genetic discrimination, and protect genetic privacy through appropriate legislation.

Ethics, Medical↗
PubMed1998

The Human Genome Project and the role of genetics in health care.

The Human Genome Project, the mapping of our 100,000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the therapeutic and preventive health care. The tracing of genetic diseases to their molecular causes is rapidly expanding diagnostic and preventive options, while the increased insights into molecular pathways open tremendous perspectives for pharmacological and genetic therapies. The design of animal model systems for the functional study of disease and development of bioinformatics and biostatistics to improve our pattern recognition abilities are greatly accelerating progress. However, the optimal value from the current explosion of 'data mining' possibilities will only be gained when the basic data are made and kept publicly accessible, at the same time preventing the jeopardisation of the protection of intellectual property, arising from downstream inventions. This is one of the goals of HUGO, the international Human Genome Organisation, established 9 years ago to assist coordinating data acquisition and exchange and societal implementation of the genome project. Additional points of major importance in this historic endeavour are the safeguarding of a worldwide balance in the contribution and benefits to countries and population, the prevention of stigmatisation and discrimination of individuals and groups and the maintenance of respect for the priceless diversity of our world's cultures and traditions.

Delivery of Health Care↗