Skip to Main Content
  • Become an Access Reviewer
  • Clinical Phenotypes
  • OMMBID Advisory banner
  • Ommbid banner
  • Ommbid latest banner

Abstract

Abstract 

  1. The World Wide Web has changed the way people shop, communicate, and learn. It also has fundamentally changed the way information is shared. The Web has had a particularly profound effect in the life sciences, in which the rapid compilation and exchange of large volumes of information increasingly is becoming the norm.

  2. Hundreds of online databases containing tens of gigabytes of biochemical or genetic data, along with hundreds of online tutorials covering thousands of biomedical subjects, are now available on the Web. These information-rich Web resources are becoming integral to many aspects of modern biology and biomedical research.

  3. This chapter reviews some of the key online database that are dedicated to explaining or displaying up-to-date information on metabolism, metabolic pathways, and metabolic diseases, including (1) metabolic pathway databases, (2) metabolomic databases, (3) genetic and metabolic disease databases, (4) single-nucleotide polymorphism (SNP) and mutation databases, and (5) sequence databases.

  4. Most online metabolic pathway databases are image-rich tools that are designed to facilitate the exploration of metabolism and metabolites across many different species. These databases also serve as a backbone to facilitate many practical applications in biology, including comparative genomics, targeted genome annotation, metabolite tracing, diet prediction, metabolic engineering, and metabolic simulation. Metabolic pathway databases often have served as the basis for understanding the genetic origins of newly discovered metabolic disorders, tracing the chemical or enzymatic origins of disease-associated metabolites, and suggesting potential dietary and drug interventions to treat inborn errors of metabolism.

  5. Metabolomic databases such as the Human Metabolite Database (HMDB); (http://www.hmdb.ca) tend to offer a much more comprehensive view of human metabolism by combining detailed chemical data [such as assigned mass spectometry (MS) and nuclear magnetic resonance (NMR) spectra of pure metabolites] that would appeal to clinical chemists with detailed sequence, pathway, genetic, physiologic, and disease information that would appeal to clinicians and medical geneticists.

  6. Online genetic/metabolic disease databases such as Online Mendelian Inheritance in Man (OMIM); (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM) and MetaGene (http://www.metagene.de/index.html) are critical in providing up-to-date information and context to the many hundreds of inherited conditions that have been found or identified over the last quarter century. The growth in the number of online genetic and metabolic resources over the last decade has paralleled the growth in online resources and online databases for metabolic pathways and metabolomics.

  7. Web-based SNP and mutation databases represent an important resource for understanding the molecular basis of many genetic disorders, including inherited metabolic diseases. Fundamentally, SNP and mutation databases provide key insights into the molecular-scale defects that affect the expression or activity of many disease-associated proteins. Because disease mutations rarely are reported in the literature and because the quantity of known disease mutations is so large, the existence of these online databases is critical to ensuring that this information is not lost to the scientific community.

  8. Today’s Web-based resources provide a remarkably rich collection of data, images, movies, and diagrams that can be searched, browsed, and displayed easily. They also offer flexibility in exploring the details of almost any human disease, gene, metabolite, or metabolic pathway that has ever been found or described.

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.