Questions and Answers

[ Home Page | Disease Genes and Loci | Summaries | Symbols | References | Abbreviations | Notes | Comments ]

Table of Contents:

How do I find a disease gene using RetNet?

1. If you know the chromosome location for the gene, you can use the disease list which is separated into chromosome groups -- just click on the chromosome.

2. If you know the gene symbol (such as "RP10") but not the location, you can use the alphabetical list of symbols -- just find the symbol and click on it.

3. If you want to search for a specific disease or term (such as "Usher syndrome"), go to the " B. Diseases" table in the summaries to see whether the term is listed. If not, go to the top of the disease table and use your browser's "Find" and "Find Again" commands.

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Why are some RetNet tables hard to load completely?

Some RetNet tables are large because all of the information is on one Web page. Loading may be slow and this increases the chance of an interruption, though this is not a problem for most WiFi connections. If loading is interrupted, an incomplete version is displayed and this version is also saved in the disk cache. If this happens, try to "Reload" or "Refresh". If the problem persists, it may be necessary to empty the cache and reload the table. To avoid this, allow the RetNet table to load completely before using a link. (The status bar on your browser should say when loading is done).

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Where does the information in RetNet come from?

Information in RetNet is from published articles in the scientific literature or is provided by experts on inherited retinal diseases. Gene symbols are usually assigned by the Nomenclature Committee of the Human Genome Organization (see below) as reported in OMIM (see below). We strive for accuracy and completeness but we cannot guarantee that all RetNet information is correct or complete. We welcome comments and suggestions!

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How do I cite RetNet in an article?

Thanks for asking! The format for citing a Web site in an article depends on the journal or publisher. We request that the URL be included in either the text or references. In the text we suggest either "RetNet, the Retinal Information Network" or "RetNet,". In the references we suggest either "RetNet," or "SP Daiger, BJF Rossiter, J Greenberg, A Christoffels, W Hide. Data services and software for identifying genes and mutations causing retinal degeneration. Invest. Ophthalmol.Vis. Sci. 39:S295, 1998". Institutional credit should go the the University of Texas-Houston Health Science Center.

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What are OMIM and PubMed?

1. OMIM is the Online Mendelian Inheritance in Man database. It is an extensive 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 the National Center for Biotechnology Information. The database contains textual information, pictures, and reference information.

2. PubMed is a publication service provided by the National Library of Medicine and the National Center for Biotechnology Information. PubMed provides access to the 9 million citations in MEDLINE and Pre-MEDLINE (with links to participating on-line journals), and other related databases.

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How do I get back to RetNet from OMIM or PubMed?

RetNet pages are written so that links to OMIM and PubMed open in a new browser window (if your browser supports this feature). This allows for faster return to RetNet. If your browser DOES support this feature (most do), simply close or exit the new window -- the previous window should display RetNet. If not, use the "Back" function or select RetNet from your list of previous sites.

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How are gene symbols assigned and what is HUGO?

Symbols for genes and diseases are often suggested by authors when they first describe the gene or the chromosome location of the disease. This may lead to overlapping or confusing symbols, though. To help assign consistent, non-overlapping symbols the HUGO Nomenclature Committee serves as an international clearing house for new symbols, based on suggestions by authors or on symbols for similar genes or diseases. HUGO is the Human Genome Organization, an international scientific organization which promotes coordination of the Human Genome Project (a project to determine all human genes). In RetNet tables, the HUGO-approved symbol is shown in bold; symbols in parentheses are pending.

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What if I have questions about a particular medical condition?

Information on RetNet is for research purposes only, and is intended for the scientific community and other interested individuals. We cannot comment or provide advice on any particular condition. We recommend that personal questions be directed to your physician or health care specialist.

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What is the Foundation Fighting Blindness?

The Foundation Fighting Blindness is a non-profit foundation supporting research on the causes and treatments of inherited retinal diseases, such as retinitis pigmentosa, and acquired diseases such as age-related macular degeneration. The Foundation provides information and other services for members and the general public. For membership information contact The Foundation Fighting Blindness, 11435 Cronhill Drive, Owings Mills, MD 21117-2220, or call 888-394-3937 (toll free).

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How can I support research on inherited retinal diseases?

Contributions to the Foundation Fighting Blindness support a wide range of research projects on the diagnosis and treatment of inherited retinal diseases. In Houston, the Hermann Eye Fund supports research in Houston and Texas on inherited eye diseases. Contributions to the Hermann Eye Fund may be sent to the Hermann Eye Center, Department of Ophthalmology and Visual Science, The University of Texas Health Science Center, Houston, TX 77030.

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Supported by The Foundation Fighting Blindness, The George Gund Foundation, and The Hermann Eye Fund.

©1996-2024, Lori S. Sullivan, PhD & Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas