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Surfing for neurogenetics
  1. M M K Muqit
  1. Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London m.muqit{at}

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    Genetics is the area of medicine most associated with the world wide web. This has stemmed from the acclaimed efforts of the International Human Genome Sequencing Consortium to ensure that the draft sequence of the human genome sequence was available online to the public ( Moreover, the ease of updating information on the web has made it an important medium for rapidly advancing clinical areas such as neurogenetics. As a result there are many excellent websites pertaining to genetics. I shall highlight those that fulfil some or all of the following criteria that make a good web site—namely: design and layout; accurate and up-to-date information; ease of navigation; and multiple links.

    As a starting point, patients and doctors may need to familiarise themselves with common genetic terms and concepts. The National Human Genome Research Institute (NHGRI) has produced a very useful talking glossary ( that provides clear definitions backed up with detailed audio explanation from various NHGRI researchers including Francis Collins (leader of the Human Genome Project.) The UK Genetic Interest Group (GIG) has a good education section on their web page ( This includes a comprehensive glossary with easy-to-follow pictures for explaining the different inheritance patterns for genetic diseases. The most impressive web page for the number of educational links alone has to be the Genetics Education Center (GEC) run by the University of Kansas at

    Given the clinical diversity of neurogenetic conditions, it is unsurprising that no one web site provides patient information encompassing all neurogenetic conditions. However, there are several offering good lists of links. GIG has contact information and links for virtually all UK support groups dealing with the common and rare neurogenetic diseases. Of these the Charcot Marie Tooth (CMT) UK web site is excellent ( It is easy to navigate and explains the genetics well and includes a children’s section. Internationally, the University of Kansas has a “Genetic and rare conditions” site at that lists links for genetic disease support groups in North America as well as the rest of the world.

    For the jobbing neurologist who wants to rapidly ascertain up to date information on the genetics of any neurological condition, the best web site is the Online Mendelian Inheritance in Man (OMIM) database ( This is now easier to search through via its incorporation into the Entrez system of the National Center for Biotechnology Information (NCBI) at Any entry usually results in multiple hits in descending order of relevance. For any disease the known genes are listed with other relevant information including clinical features and pathogenesis. The accession numbers of genes form links that allow you to access more detailed information about the gene, including its chromosome location and function. Also useful is a list of the reported allelic variants of the gene with respective phenotypic information. All this information is exhaustively referenced with links to cited articles in the Entrez PubMed database. The OMIM database is also useful for neurological diseases that are genetically complex or where a single causative gene has yet to be identified—for example, Gilles de la Tourette syndrome—and provides information from family and mapping studies. Disadvantages of OMIM are that for some entries the information is not always up to date. Also the updating of entries often consists merely of add-on of information rather than complete revision.

    Another useful site for neurologists is at It is free but requires a one-off registration process. Its GeneReview section offers up to date reviews of many genetic and neurogenetic disorders written by leading researchers. These reviews are accessible by an easy search facility. The rest of the site has interesting pages on genetic counselling as well as information on laboratories performing genetic tests, although they are largely in North America. Information on UK genetic service laboratories is available on the GIG web site.

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