Genetic disorders and testing information

 

Given the exponential rate at which information from the human genome project is being translated into understanding clinical human disease, it is virtually impossible for the practicing neonatologist to stay current on the latest in genetic diagnosis, testing, and treatment.  Several websites are available to assist the clinician.

                Johns Hopkins University offers OMIM, Online Medelian Inheritance in Man, an exhaustive and up-to-date catalog of human genes and genetic disorders.  The OMIM database can be searched for a constellation of dysmorphic features.  Search OMIM at:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=omim

 

            The time-honored textual reference replete with photographs/visual aids is Smith’s Recognizable Patterns of Human Malformation, 5th ed. by K. L Jones, published by W.B.Saunders Company, 1997.

 

            Most recently, the NIH offers GeneClinics, a publicly funded medical genetics information resource where the practicing physician can find an international list of genetic testing laboratories for any rare disorder for which testing has become available, even if only on an investigative basis.  GeneClinics also features GeneReviews, expert-authored reviews of genetic diseases for the physician, as well as educational materials for families, and a wealth of other information.  See GeneClincs at :

http://www.geneclinics.org

 

Presented at the VUMC 8th Annual Neonatology Symposium 10/11/02.

        Archived Versions: None