title: Orphan diseases: state of the drug discovery art.
abstract: Since 1983 more than 300 drugs have been developed and approved for orphan diseases. However, considering the development of novel diagnosis tools, the number of rare diseases vastly outpaces therapeutic discovery. Academic centers and nonprofit institutes are now at the forefront of rare disease R&D, partnering with pharmaceutical companies when academic researchers discover novel drugs or targets for specific diseases, thus reducing the failure risk and cost for pharmaceutical companies. Considerable progress has occurred in the art of orphan drug discovery, and a symbiotic relationship now exists between pharmaceutical industry, academia, and philanthropists that provides a useful framework for orphan disease therapeutic discovery. Here, the current state-of-the-art of drug discovery for orphan diseases is reviewed. Current technological approaches and challenges for drug discovery are considered, some of which can present somewhat unique challenges and opportunities in orphan diseases, including the potential for personalized medicine, gene therapy, and phenotypic screening.
authors.affiliation: Center for Therapeutic Innovation (CTI), Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, 1501 NW 10th Ave, BRB #416 (M860), 33136, Miami, FL, USA.
authors.forename: Claude-Henry
authors.initials: CH
authors.lastname: Volmar
authors.affiliation: Center for Therapeutic Innovation (CTI), Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, 1501 NW 10th Ave, BRB #416 (M860), 33136, Miami, FL, USA.
authors.forename: Claes
authors.initials: C
authors.lastname: Wahlestedt
authors.affiliation: Center for Therapeutic Innovation (CTI), Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, 1501 NW 10th Ave, BRB #416 (M860), 33136, Miami, FL, USA. sbrothers@med.miami.edu.
authors.forename: Shaun P
authors.initials: SP
authors.lastname: Brothers
mesh_terms: D000046:Academic Medical Centers / Q000639:trends; D001317:Austria; D055808:Drug Discovery / Q000639:trends; D004345:Drug Industry / Q000639:trends; D005544:Forecasting; D015316:Genetic Therapy / Q000639:trends; D033183:Interdisciplinary Communication; D000070516:Intersectoral Collaboration; D000071220:Pharmaceutical Research / Q000639:trends; D057285:Precision Medicine / Q000639:trends; D035583:Rare Diseases / Q000188:drug therapy* / Q000453:epidemiology
keywords: Drug discovery; Gene therapy; Orphan disease; Personalized medicine; Rare disease
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