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Genetic Disorders
 Websites presented in alphabetical order Blazing a Genetic Trail 
 The complex subject of genetic testing and treatment of inherited disorders is made understandable by the straightforward explanations of this Howard Hughes Medical Institute site. The step-by-step organization and graphics make it easy to use. There is an overview of basic genetics as well as a glossary. http://www.hhmi.org/genetictrail/ Topics: Diseases & Conditions, Health, Health & Medical Disciplines, Science, Science Last updated Sep 13, 2002 Center for Jewish Genetic Diseases
The site offers information about genetic diseases such as Bloom's syndrome, familial dysautonomia, torsion dystonia, and Tay-Sachs disease. Discusses symptoms, diagnostic tests, and disease management. The site also includes a glossary and a list of books and journal articles. This center, located at Mount Sinai School of Medicine in New York City, is "devoted to the study of diseases that affect Ashkenazi Jews." http://www.mssm.edu/jewish_genetics/overview.shtml Topics: Diseases & Conditions Last updated Jul 30, 2008 Chicago Center for Jewish Genetic Disorders
Provides information about genetic disorders common among Jews of eastern European (Ashkenazi) descent. Intended for the Jewish community and healthcare providers, this site covers cancer and heredity basics, genetic screening and counseling, and bioethics. Also contains articles and factsheets for rabbis, community resources, an events calendar, a glossary, and related links. A "collaborative effort of the Jewish United Fund/Jewish Federation of Metropolitan Chicago and Children's Memorial Hospital." http://www.jewishgenetics.org/ Topics: Diseases & Conditions, Ethics, Health, Health & Medical Disciplines, Science, Science Last updated Sep 30, 2009 GeneTests
"A publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers." Features peer-reviewed articles; a directory of laboratories offering molecular genetic testing, searchable by disease name, gene, chromosomal locus, and other parameters; a directory of genetics and prenatal diagnosis clinics; and a glossary. From the University of Washington, Seattle. http://www.genetests.org/ Topics: Diseases & Conditions, Reproductive and Sexual Health Last updated Apr 14, 2005 Genetic Alliance
Genetic Alliance is "a coalition of more than 600 advocacy organizations serving 25 million people affected by 1000 conditions. The organization works to transform leadership in the genetics community to build capacity in advocacy organizations and to educate policymakers." Its site features links to information and support groups for genetic diseases, such as albinism, bipolar disorder, Down syndrome, and restless legs syndrome. Also includes newsletters and updates about public policy efforts. http://www.geneticalliance.org/ Topics: Diseases & Conditions, Health, Health & Medical Disciplines Last updated Apr 15, 2008 Genetic Disorders & Birth Defects Information Center
This site provides links to information about genetic diseases and birth defects. It covers the basics of genetics, including ethics, forensic uses, and career possibilities. Features information about adult genetic risks, resources for genetic testing and counseling, and pages for parents, students, teachers, and health professionals. Searchable. From the Indiana University School of Medicine Library. http://geneinfo.medlib.iupui.edu Topics: Diseases & Conditions, Health, Health & Medical Disciplines, Mysteries and More, Science, Science Last updated May 10, 2005 Genetics Home Reference: A Guide to Understanding Genetic Conditions
This National Library of Medicine site provides "consumer information about genetic conditions and the genes responsible for those conditions." A searchable and browsable directory includes FAQs and links to related resources about specific genes and conditions. The site also offers a basic explanation of how genes work; a glossary; and information about genetic testing, gene therapy, and the Human Genome Project. http://ghr.nlm.nih.gov/ Topics: Diseases & Conditions, Health, Health & Medical Disciplines, Science, Science Last updated May 7, 2003 MEDLINEplus: Genetic Disorders
A directory of links to Web resources covering a general overview, clinical trials, pictures/diagrams, prevention/screening, research, specific conditions/aspects, treatment, dictionaries/glossaries, news, and organizations. Also includes links to a few pages in Spanish. From the National Library of Medicine (NLM). http://www.nlm.nih.gov/medlineplus/geneticdisorders.html Topics: Diseases & Conditions, Drugs, Medical Treatments & Devices Last updated Jun 19, 2004 MedlinePlus: Huntington's Disease
Collection of links to material about "Huntington's disease (HD) [which] is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age." Covers diagnosis, disease management, clinical trials, research, genetics, and news. From the National Library of Medicine (NLM) and the National Institutes of Health (NIH). http://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html Topics: Diseases & Conditions Last updated May 10, 2007 National Human Genome Research Institute (NHGRI)
This site from a National Institutes of Health affiliate provides information on genetics, inherited disease research, genetics and rare diseases, online resources, and the ethical, legal, and social issues related to genetic research. There is also information on grant funding, careers and training, educational resources. Users may submit questions about clinical genetics and genetic diseases via e-mail or telephone and look at the FAQs for answers to basic questions. http://www.genome.gov/ Topics: Diseases & Conditions, Education, Health, Health & Medical Disciplines, Science Last updated Jul 10, 2002 NBCI: Genes and Disease
A good overview of the relationship between genetics and various diseases. There are several sections: Cancer, Immune system, Metabolism, Muscle and bone, Nervous system, Signals, and Transporters. Each covers several diseases and each disease page also provides a gene map, related links, and address for associations. Additionally, a link to the new, searchable gene map of the human genome is available on each page. From the National Center for Biotechnology Information (NBCI). http://www.ncbi.nlm.nih.gov/disease/ Topics: Diseases & Conditions, Health, Health & Medical Disciplines, Science, Science Last updated Jul 6, 2005 NINDS Huntington's Disease Information Page
Fact sheet on this disease, which "results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance." Includes links to related publications and organizations. From the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH). http://www.ninds.nih.gov/disorders/huntington/huntington.htm Topics: Diseases & Conditions Last updated Apr 27, 2005 OMIM: 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 and references. It also contains copious links." It is "intended for use primarily by physicians and other professionals concerned with genetic disorders." From Johns Hopkins University. http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM Topics: Diseases & Conditions, Health, Health & Medical Disciplines, Science, Science Last updated Jun 8, 2007 Positive Exposure: The Spirit of Difference
Positive Exposure is a nonprofit organization that takes and displays photos of people with genetic differences in order to celebrate "the beauty and richness of human diversity. The organization is a unique partnership between visual arts, genetics, mental health and human rights." This brochure describes the program and displays beautiful photos of individuals who were born with genetic diseases such as Sturge-Weber Syndrome, Lowe Syndrome, and albinism. Opens directly into a PDF document. http://www.positiveexposure.org/files/positive_exposure.pdf Topics: Diseases & Conditions Last updated Apr 15, 2008 Pre-Implantation Genetic Diagnosis (PGD) & Pre-Implantation Genetic Haplotyping (PGH)
Information about the "procedures that can weed out genetically defective human embryos before they have a chance to develop." Discusses the steps in the procedure, which is not widely available, and the types of genetically-determined diseases that can be identified in the process. Provides summaries of objections and advantages to the procedure, and links to related resources. From Ontario Consultants on Religious Tolerance. http://www.religioustolerance.org/abo_pgd.htm Topics: Diseases & Conditions Last updated Jul 3, 2007 Questions and Answers About Epidermolysis Bullosa
Epidermolysis bullosa (EB) "is a group of blistering skin conditions. The skin is so fragile in people with EB that even minor rubbing may cause blistering. ... In severe EB, blisters are not confined to the outer skin. They may develop inside the body." Includes information about causes, diagnosis, symptoms, treatment, and genetic testing for EB, and links to related sites. From the National Institutes of Health (NIH). http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp Topics: Diseases & Conditions Last updated Oct 14, 2007 UCSF-Stanford Lysosomal Disease Center
This site provides general information about the rare lysosomal diseases such as Gaucher disease, Fabry disease, Hurler syndrome, and Niemann-Pick disease. "These inherited diseases are caused by problems in the lysosomes, compartments in the body's cells that contain enzymes (chemicals that break down other substances)." Also features newsletters from the center. From Stanford University and the School of Medicine at the University of California, San Francisco. http://www.medschool.ucsf.edu/Lysosomal/ Topics: Diseases & Conditions Last updated Sep 6, 2006 Your Genes, Your Health: A Multimedia Guide to Genetic Disorders
Excellent presentations about fragile X syndrome, Marfan syndrome, cystic fibrosis, hemophilia, Duchenne/Becker muscular dystrophy, phenylketonuria (PKU), Huntington disease (HD), sickle cell disease, and hemochromatosis. For each disease there are explanations of what it is, what causes it, how it is inherited and diagnosed, video clips of interviews with doctors and patients about what it is like to have the disease, links to more information, and a glossary. http://yourgenesyourhealth.org/ Topics: Diseases & Conditions Last updated May 7, 2002 |
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