TITLE: Online Mendelian Inheritance in Man

ACCESS: http://gdbwww.gdb.org or gopher.gdb.org (under 'Search Databases at Hopkins')

The explosive growth of molecular biology has increased research in and knowledge of genetic diseases, often identifying the specific chromosomal location of genes and holding out hope of possible treatment for some inherited afflictions. The standard reference for genetic disease is _Mendelian Inheritance in Man_ (edited by Victor McKusick and published by Johns Hopkins Press), now in its 11th edition. The first edition in 1966 was 344 pages; the 1994 edition is more than 3000 pages in two hefty volumes. Each entry includes a concise description of the discovery history of the particular genetic disease, extensive references to the research literature, and a clinical synopsis to aid in diagnosis.

Online Mendelian Inheritance in Man_ (OMIM) is the electronic version, under active development and revision with daily updates as new literature appears. OMIM is accessible via WWW and gopher. The WWW version offers a forms-based search interface, incorporates a growing array of multimedia additions (images, video and sound files in some entries), and permits links to chromosome maps from the Genome Data Base (GDB). In the WWW version entries appear as hypertext, with links to related entries and to bibliographic citations. The gopher version is limited to keyword searching.

OMIM is obviously an essential tool for medical and genetic research, but it has a more general utility as an example of the Web's evolving potentials as an information delivery medium. Reference librarians and Internet trainers who have no particular interest in genetic diseases can use OMIM as a means to answer questions and illustrate searching strategies in indexed databases. A few examples will make this clear.

A query by keyword, by author's name, or by specific OMIM heading returns a relevance-ranked list of entries in which the search term appears. Boolean searching and wild-card matching are supported.


     "jumping Frenchman" in the title field [a favorite 
          example, readily understood by lay audiences]
     "Wallace and D." in references field [retrieves 69 
          entries with references to articles by D.C. Wallace, 
          a leader in research in mitochondrial DNA]
     "hepatomegaly" in clinical synopsis field [entries 
          where enlarged liver is a symptom --an example of a 
          possible diagnostic use]

If you have a graphic browser with sound and video capability these examples indicate the direction of OMIM's future development:

     "143100" in OMIM number field [Huntington Disease, with 
          several .mpg video clips]
     "cri-du-chat" in title field [contains a .gif image 
        and .au sound file] 

OMIM is a marvelous example of the possibilities for timely distribution of complex information. Within a few years search interfaces as effective as this will be quite common, and many subject areas will have multimedia presentation utilities; for now, OMIM is a welcome harbinger of future developments.

Hugh Blackmer
Reference Librarian
Washington and Lee University

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