Seltene Krankheiten: Aktueller Stand der Pharmaforschung

Translated title of the contribution: Orphan diseases: state of the drug discovery art

Claude Henry Volmar, Claes Wahlestedt, Shaun P. Brothers

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Translated title of the contributionOrphan diseases: state of the drug discovery art
Original languageGerman
Pages (from-to)197-204
Number of pages8
JournalWiener Medizinische Wochenschrift
Issue number9-10
StatePublished - Jun 1 2017


  • Drug discovery
  • Gene therapy
  • Orphan disease
  • Personalized medicine
  • Rare disease

ASJC Scopus subject areas

  • Medicine(all)


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