An online compendium of treatable genetic disorders. Issue 1 (22nd December 2020)

• Record Type: Journal Article
• Authors: Bick, David; Bick, Sarah L.; Dimmock, David P.; Fowler, Tom A.; Caulfield, Mark J.; Scott, Richard H.
• Other Names: Solomon Benjamin D. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 187:Issue 1(2021)
• Page Start: 48
• Page End: 54
• Publication Date: 2020-12-22
• Subjects: genetic diseases -- internet -- mobile application -- treatment; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31874
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract: More than 4, 000 genes have been associated with recognizable Mendelian/monogenic diseases. When faced with a new diagnosis of a rare genetic disorder, health care providers increasingly turn to internet resources for information to understand the disease and direct care. Unfortunately, it can be challenging to find information concerning treatment for rare diseases as key details are scattered across a number of authoritative websites and numerous journal articles. The website and associated mobile device application described in this article begin to address this challenge by providing a convenient, readily available starting point to find treatment information. The site, Rx-genes.com (https://www.rx-genes.com/ ), is focused on those conditions where the treatment is directed against the mechanism of the disease and thereby alters the natural history of the disease. The website currently contains 633 disease entries that include references to disease information and treatment guidance, a brief summary of treatments, the inheritance pattern, a disease frequency (if known), nonmolecular confirmatory testing (if available), and a link to experimental treatments. Existing entries are continuously updated, and new entries are added as novel treatments appear in the literature.