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Genetics of disease Web alert Tyra G Wolfsberg*, Michal Galdzicki† and Izabela Makalowska‡ A selection of World Wide Web sites relevant to papers published in this issue of Current Opinion in Genetics and Development. Addresses *National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Building 38A, Room 8N-805, Bethesda, Maryland 20894, USA; e-mail:
[email protected] †‡National Human Genome Research Institute, National Institutes of Health, Building 49, Room 2B75, Bethesda, Maryland 20892-4431, USA † e-mail:
[email protected] ‡ e-mail:
[email protected] Current Opinion in Genetics and Development 2000, 10:245–246
Genes and Disease http://www.ncbi.nlm.nih.gov/disease/ The ‘Genes and Disease’ site, at the National Center for Biotechnology Information, National Institutes of Health (NIH), profiles disease-causing genes for students and the public. A page for each disease briefly describes the condition and the gene(s) associated with it and provides links to gene-based resources, such as mapping data and biomedical literature, as well as information sites for patients. Glossary of Genetic Terms http://www.nhgri.nih.gov/DIR/VIP/Glossary/ The National Human Genome Research Institute at the NIH maintains this useful glossary. Genetic terms, and certain diseases, are succinctly defined and are also linked to a more detailed audio explanation. OMIM™ — Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov/Omim/ OMIM™ (Online Mendelian Inheritance in Man) — authored and edited by Victor A McKusick and his colleagues at Johns Hopkins and elsewhere — contains textual information, pictures, and reference information for human genes and genetic disorders. The OMIM Morbid Map, a catalog of genetic diseases and their cytogenetic map locations arranged alphabetically by disease, is also available. The Human Gene Mutation Database http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html This database, maintained at the Institute of Medical Genetics in Cardiff, Wales, represents an attempt to collate known (published) gene lesions responsible for human inherited disease. LocusLink http://www.ncbi.nlm.nih.gov/LocusLink/ The National Center for Biotechnology Information ‘LocusLink’ project provides a single-query interface to curated sequence and descriptive information about genes. It presents information on official nomenclature, aliases, sequence accession numbers, phenotypes, EC numbers,
MIM numbers, UniGene clusters, map information, and relevant web sites. Malaria Genetics & Genomics http://www.ncbi.nlm.nih.gov/Malaria/ This web resource from the National Center for Biotechnology Information provides data and information relevant to malaria genetics and genomics. These resources include organism-specific sequence BLAST databases, genome maps, linkage markers, and information about genetic studies. Graphic Images of Parasites — Plasmodium spp. http://www.biosci.ohiostate.edu/~parasite/plasmodium.html This page, maintained at The Ohio State University, College of Biological Sciences, presents a collection of images of four species of Plasmodium infecting human red blood cells. The Cancer Genome Anatomy Project (CGAP) http://www.ncbi.nlm.nih.gov/ncicgap/ The ‘Cancer Genome Anatomy Project’ (CGAP), administered by the National Cancer Institute at the NIH, is an interdisciplinary program that seeks to identify the genes responsible for the establishment and growth of cancer. CancerNet http://cancernet.nci.nih.gov/ ‘CancerNet’, administered by the National Cancer Institute, provides information about cancer and its treatment for patients, caregivers, and health professionals. HUGO Mutation Database Initiative http://ariel.ucs.unimelb.edu.au:80/~cotton/mdi.htm At this site, The Human Genome Organisation (HUGO) and the March of Dimes maintain lists of locus-specific mutation databases. Office of Rare Diseases http://rarediseases.info.nih.gov/ord/ The Office of Rare Disease at the NIH provides information about >6000 rare diseases. It includes information about the diseases, as well as links to clinical trials, medical research, patient support groups, and genetic testing. GeneTests http://www.genetests.org/ ‘GeneTests’ is an online genetics resource that provides upto-date genetic counseling and testing information for the benefit of families and healthcare providers. GeneClinics http://www.geneclinics.org ‘GeneClinics’ provides short descriptions of selected inherited disorders and describes the role of genetic testing in the diagnosis, management, and counseling of individuals with those disorders.
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MEDLINEplus http://www.nlm.nih.gov/medlineplus/ ‘MEDLINEplus’, run by the National Library of Medicine at the NIH, collates information from various sources, including ‘MEDLINE’, to answer consumers’ health related questions.
Genetic Alliance http://www.geneticalliance.org The ‘Genetic Alliance’ is a coalition of genetic support groups, public agencies, biotech companies, genetics diagnostic clinics, public health departments and others dedicated to enhancing the lives of people “impacted by genetic conditions”.