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. 2021 Mar;187(1):48-54.
doi: 10.1002/ajmg.c.31874. Epub 2020 Dec 22.

An online compendium of treatable genetic disorders

David Bick  1 , Sarah L Bick  2 , David P Dimmock  3 , Tom A Fowler  4   5 , Mark J Caulfield  4   5 , Richard H Scott  4   6
Affiliations

An online compendium of treatable genetic disorders

David Bick et al. Am J Med Genet C Semin Med Genet. 2021 Mar.

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.

Keywords: genetic diseases; internet; mobile application; treatment.

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Conflict of interest statement

D. B. and S. L. B. declare no competing financial interests. D. D. received funding from Biomarin (consultant for Pegvaliase trials), Audentes Therapeutics (Scientific Advisory Board), and Ichorion Therapeutics (consultant for mitochondrial disease drugs). M. J. C., T. A. F., and R. S. are seconded to, and receive salary from, Genomics England Ltd, a wholly owned Department of Health and Social Care Company in the UK.

Figures

FIGURE 1
FIGURE 1
Homepage of Rx‐genes.com (https://www.rx‐genes.com/) website showing the search window that allows the user to perform a search in any field in the database
FIGURE 2
FIGURE 2
List of each of the fields in the database that can be queried at the Rx‐genes.com (https://www.rx‐genes.com/) website
FIGURE 3
FIGURE 3
Shows the result of a search in Rx‐genes.com for the gene, PAH. The result displays information and references about the gene and the associated disease
See this image and copyright information in PMC

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