Online Mendelian Inheritance In Man (OMIM TM Database)

Unmet Need
Today, the genetic base for each major Mendelian disease is know and a medical professional can make a diagnosis based on the presence of a specific defective gene. In addition, a patient’s DNA can also be tested to reveal if (s)he is predisposed to a disease. Using gene therapy, medical professionals can correct a genetic defect by introducing a non-defective gene to a patient’s cells. Currently, there is a need for an easily accessible database to catalogue so much genetic information. The current invention is a portal to the overwhelming amount of genetic information currently available. Advantages include:

• The most comprehensive gathering of genetic information
• Up-to-date, revised daily
• Easy access via the internet

Technology Overview
Johns Hopkins researchers have developed a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. OMIM focuses on the relationship between phenotype and genotype and contains information on all known Mendelian disorders. Each entry contains a full-text summary and links to a variety of related databases, including DNA and protein sequence, PubMed, mutation databases, HUGO nomenclature, MapViewer, GeneTests, and patient support groups. The database is updated daily and the entries contain copious links to other genetic resources. OMIM provides a straightforward and advanced portal to the vast amount of genetic information available. The database makes it possible to diagnose puzzling genetic disorders and to educate medical professionals. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.

Category(s):