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Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease

Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge theref...

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Autores principales: Walkley, Steven U., Davidson, Cristin D., Jacoby, Jonathan, Marella, Philip D., Ottinger, Elizabeth A., Austin, Christopher P., Porter, Forbes D., Vite, Charles H., Ory, Daniel S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131440/
https://www.ncbi.nlm.nih.gov/pubmed/27903269
http://dx.doi.org/10.1186/s13023-016-0540-x
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author Walkley, Steven U.
Davidson, Cristin D.
Jacoby, Jonathan
Marella, Philip D.
Ottinger, Elizabeth A.
Austin, Christopher P.
Porter, Forbes D.
Vite, Charles H.
Ory, Daniel S.
author_facet Walkley, Steven U.
Davidson, Cristin D.
Jacoby, Jonathan
Marella, Philip D.
Ottinger, Elizabeth A.
Austin, Christopher P.
Porter, Forbes D.
Vite, Charles H.
Ory, Daniel S.
author_sort Walkley, Steven U.
collection PubMed
description Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinical research to advance understanding of pathogenesis and accelerate therapy development. Here we describe a rare, fatal brain disorder known as Niemann-Pick type C (NPC) and an innovative research collaborative known as Support of Accelerated Research for NPC (SOAR-NPC) which illustrates one pathway through which knowledge of a rare disease and its possible treatments are being successfully advanced. Use of the “SOAR” mechanism, we believe, offers a blueprint for similar advancement for many other rare disorders.
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spelling pubmed-51314402016-12-12 Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease Walkley, Steven U. Davidson, Cristin D. Jacoby, Jonathan Marella, Philip D. Ottinger, Elizabeth A. Austin, Christopher P. Porter, Forbes D. Vite, Charles H. Ory, Daniel S. Orphanet J Rare Dis Letter to the Editor Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the pharmaceutical industry. The challenge therefore is how best to mobilize rare disease stakeholders to enhance basic, translational and clinical research to advance understanding of pathogenesis and accelerate therapy development. Here we describe a rare, fatal brain disorder known as Niemann-Pick type C (NPC) and an innovative research collaborative known as Support of Accelerated Research for NPC (SOAR-NPC) which illustrates one pathway through which knowledge of a rare disease and its possible treatments are being successfully advanced. Use of the “SOAR” mechanism, we believe, offers a blueprint for similar advancement for many other rare disorders. BioMed Central 2016-12-01 /pmc/articles/PMC5131440/ /pubmed/27903269 http://dx.doi.org/10.1186/s13023-016-0540-x Text en © The Author(s). 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Letter to the Editor
Walkley, Steven U.
Davidson, Cristin D.
Jacoby, Jonathan
Marella, Philip D.
Ottinger, Elizabeth A.
Austin, Christopher P.
Porter, Forbes D.
Vite, Charles H.
Ory, Daniel S.
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
title Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
title_full Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
title_fullStr Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
title_full_unstemmed Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
title_short Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
title_sort fostering collaborative research for rare genetic disease: the example of niemann-pick type c disease
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131440/
https://www.ncbi.nlm.nih.gov/pubmed/27903269
http://dx.doi.org/10.1186/s13023-016-0540-x
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