Rare genetic diseases: update on diagnosis, treatment and online resources.

Rare genetic diseases: update on diagnosis, treatment and online resources. Drug Discov Today. 2017 Nov 09;: Authors: Pogue RE, Cavalcanti DP, Shanker S, Andrade RV, Aguiar LR, Carvalho JL, Costa FF Abstract Rare genetic diseases collectively impact a significant portion of the world's population. For many diseases there is limited information available, and clinicians can find difficulty in differentiating between clinically similar conditions. This leads to problems in genetic counseling and patient treatment. The biomedical market is affected because pharmaceutical and biotechnology industries do not see advantages in addressing rare disease treatments, or because the cost of the treatments is too high. By contrast, technological advances including DNA sequencing and analysis, together with computer-aided tools and online resources, are allowing a more thorough understanding of rare disorders. Here, we discuss how a collection of various types of information together with the use of new technologies is facilitating diagnosis and, consequently, treatment of rare diseases. PMID: 29129805 [PubMed - as supplied by publisher]
Source: Drug Discovery Today - Category: Drugs & Pharmacology Authors: Tags: Drug Discov Today Source Type: research