Cybermed Update August 2000

The Human Genome

"As the work of the Human Genome Project progresses, opportunities to use genetic information safely and effectively to improve health and prevent disease will continue to emerge.  Gene sequencing and discovery are only the beginning."  

(M. Khoury MD,PhD, Director, Office of Genetics and Disease Prevention)

The National Human Genome Research Institute (NHGRI) was originally established in 1989 as The National Center for Human Genome Research (NCHGR). Its mission is to head the Human Genome Project for the National Institutes of Health (NIH). NHGRI is one of 24 institutes, centers, or divisions that make up the NIH, the federal government's primary agency for the support of biomedical research. The collective research components of the NIH make up the largest biomedical research facility in the world. NIH is part of the U.S. Department of Health and Human Services.

What is the Human Genome Project?

The Human Genome Project (HGP) ( )is an international research program designed to construct detailed genetic and physical maps of the human genome, to determine the complete nucleotide sequence of human DNA, to localize the estimated 50,000-100,000 genes within the human genome, and to perform similar analyses on the genomes of several other organisms used extensively in research laboratories as model systems. The scientific products of the HGP will comprise a resource of detailed information about the structure, organization and function of human DNA, information that constitutes the basic set of inherited "instructions" for the development and functioning of a human being. Successfully accomplishing these ambitious goals will demand the development of a variety of new technologies. It will also necessitate advanced means of making the information widely available to scientists, physicians, and others in order that the results may be rapidly used for the public good. Improved technology for biomedical research will thus be another important product of the HGP. From the inception of the HGP, it was clearly recognized that acquisition and use of such genetic knowledge would have momentous implications for both individuals and society and would pose a number of policy choices for public and professional deliberation. Analysis of the ethical, legal, and social implications of genetic knowledge, and the development of policy options for public consideration are therefore yet another major component of the human genome research effort. See also Human Genome Project Information. ( )

Glossary of Genetics ( ) An illustrated glossary from the National Human Genom Research Institute. See loads of related sites at Genomic and Genetic Resources on the World Wide Web .


The Human Genome Organisation (HUGO) is the international organisation of scientists involved in the Human Genome Project (HGP), the global initiative to map and sequence the human genome. HUGO was established in 1989 by a group of the world's leading genome scientists to promote international collaboration within the project. 

HUGO carries out a complex coordinating role within the HGP. HUGO activities range from support of data collation for constructing genetic and physical maps of the human genome to the organisation of workshops to promote the consideration of a wide range of ethical, legal, social and intellectual property issues. HUGO fosters the exchange of data and biomaterials, encourages the spreading and sharing of technologies, provides information and advice on aspects of human genome programmes and serves as a coordinating agency for building relationships between various governmental funding agencies and the genome community. HUGO provides an interface between the HGP and the many groups and organisations interested or involved in the human genome initiative. 


Established at Johns Hopkins University in Baltimore, Maryland, USA in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the Spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at The Hospital for Sick Children in Toronto, Ontario, Canada, assumed the management of GDB. The Human Genome Initiative is a worldwide research effort to analyze the structure of human DNA and determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated worldwide by those researchers engaged in the mapping effort of the Human Genome Project (HGP).

GDB's mission is to make available to scientists an encyclopedia of the human genome that is being constantly revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focussed on gene mapping, as the Genome Project moves from mapping to sequence to functional analysis, GDB's focus will be broadened. Extensions are under development in the representation of sequence-level genome content, including sequence variations, along with richer descriptions of function and phenotype.

The task of curating the content of this encyclopedia and maintaining its correctness and currency is enormous. Members of the scientific community are invited to participate by submitting their data, adding annotations to existing data, and adding links from objects in GDB to related objects in other databases. The model of object-ownership built into GDB's software ensures that individuals get credit for, and maintain sole editing rights to the data they submit to GDB. GDB is, in a sense, an experiment in an exciting new form of collaborative scientific publication; we are attempting to create a truly community-curated database. We hope that the research community will work with us to make this concept a reality.


The Human Genome Project is entering its climactic phase that will result, as early as 2003, in a complete and accurate DNA sequence representing the genetic blueprint and evolutionary history of the human species. Moreover, a "working draft" of this "book of life" may be available as early as 2001 and, in both cases, an index to the chapters and paragraphs will greatly enhance both the completion of the finished product as well as the practical utility of the intermediate results for biomedicine.

This new gene map represents such an index as it includes the locations, within this text, of more than 30,000 genes and provides an early glimpse of some of the most important pieces of the genome. Even more importantly, the map can be immediately applied by scientists to the identification and isolation of genes that either directly cause human ailments or increase our susceptibility to disease.


DNA from the Beginning is organized around key concepts.The science behind each concept is explained by animation, image gallery, video interviews, problem, biographies, and links. A superb site to have a quick grasp of genetics.


GeneClinics is a medical knowledge base relating genetic testing to the diagnosis, management, and genetic counseling of individuals and families with specific inherited disorders.


The first place to check when looking for information on those rare or 'orphan' diseases. The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.


Welcome to OMIM(TM), Online Mendelian Inheritance in Man. This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information, pictures, and reference information. It also contains copious links to NCBI's Entrez database of MEDLINE articles and sequence information.


Incyte genomics the world's leading bioinformatics company offers you access to the world's largest and most comprehensive database of genomic information available.


The Institute for Genomic Research is a not-for-profit research institute with interests in structural, functional, and comparative analysis of genomes and gene products in viruses, eubacteria, pathogenic bacteria, archaea, and eukaryotes (both plant and animal), including humans. See also The Minimal Genome Project .


HUM-MOLGEN is one of the world's largest Internet sources for the latest information in human molecular genetics (more than 5.800 mailing list subscribers and 40.000 WWW users). Their service provides the opportunity to communicate with scientists, physicians and other genetics professionals worldwide, links to leading resources and journals, comprehensive listings of meetings and seminars and a large classified ads section in genetics and medicine.


Genetics is becoming a factor in the diagnosis and treatment of all kinds of disorders. While aware of medical genetics' growing importance, many people, both doctors and patients, feel it is difficult to keep pace with this rapidly advancing area. Famed geneticist, Dr. Jim Lupski, outlines the basic terrain of the genome project and introduces some of its issues and vocabulary.


This site provides public health professionals with current information on the impact of human genetic research and gene discoveries on disease prevention and health promotion. See also The Human Genome Project : A Public Health Perspective ( ) "Excitement about the progress of the Human Genome Project abounds in both research and medical communities. However, as excitement abounds, so does confusion. While many people worry about social and ethical issues surrounding genetics, others say that a revolution in medicine is occurring—a revolution that will usher in a new era of disease prevention and treatment. Although there appears to be agreement that the impact of the Human Genome Project will probably be felt across all disease areas, a basic question remains. What do the genetic discoveries of the Human Genome Project mean to disease prevention and good health?" Frequently Asked Questions About the Role of Genetics in Public Health.

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