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Review
. 2018 Nov 6;13(1):196.
doi: 10.1186/s13023-018-0936-x.

From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research

Petra Kaufmann  1 , Anne R Pariser  2 , Christopher Austin  3
Affiliations
Review

From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research

Petra Kaufmann et al. Orphanet J Rare Dis. .

Abstract

We now live in a time of unprecedented opportunities to turn scientific discoveries into better treatments for the estimated 30 million people in the US living with rare diseases. Despite these scientific advances, more than 90% of rare diseases still lack an effective treatment. New data and genetics technologies have resulted in the first transformational new treatments for a handful of rare diseases. This challenges us as a society to accelerate progress so that no disease and no patient is, ultimately, left behind in getting access to safe and effective therapeutics. This article reviews initiatives of the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR) that are aimed at catalyzing rare diseases research. These initiatives fall into two groups: Promoting information sharing; and building multi-disciplinary multi-stakeholder collaborations. Among ORDR's information sharing initiatives are GARD (The Genetics and Rare Diseases Information Center), RaDaR (The Rare Diseases Registries Program) and the NCATS Toolkit for Patient-Focused Therapy Development (Toolkit). Among the collaboration initiatives are the RDCRN (Rare Diseases Clinical Research Network), and the NCATS ORDR support for conferences and workshops. Despite the success of these programs, there remains substantial work to be done to build enhanced collaborations, clinical harmonization and interoperability, and stakeholder engagement so that the recent scientific advances can benefit all patients on the long list of rare diseases waiting for help.

Keywords: Clinical studies; Interdisciplinary research; Investigational therapies; National Center for Advancing Translational Sciences; Rare diseases.

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Conflict of interest statement

Ethics approval and consent to participate

Not applicable.

Consent for publication

Not applicable.

Competing interests

The authors have no competing interests to disclose. PK is an employee of Avexis, Inc., and reports personal fees and other support from Avexis, Inc. ARP and CA are employees of the US Federal government.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Challenges, opportunities and strategies for rare diseases therapy development
Fig. 2
Fig. 2
Overview of ORDR initiatives by strategy, and examples of national and international partners
Fig. 3
Fig. 3
Section overview of the “Toolkit for Patient-Focused Therapy Development” [18]
See this image and copyright information in PMC

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