Fostering collaborative research for rare genetic disease

The example of niemann-pick type C disease

Steven U. Walkley, Cristin D. Davidson, Jonathan Jacoby, Philip D. Marella, Elizabeth A. Ottinger, Christopher P. Austin, Forbes D. Porter, Charles H. Vite, Daniel S. Ory

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Article number161
JournalOrphanet Journal of Rare Diseases
Volume11
Issue number1
DOIs
StatePublished - Jan 12 2016

Fingerprint

Type C Niemann-Pick Disease
Inborn Genetic Diseases
Foster Home Care
Rare Diseases
Research
Community Health Services
Translational Medical Research
Drug Industry
Brain Diseases
Health Personnel
Therapeutics

Keywords

  • Collaborative science
  • Cyclodextrin
  • Drug pipeline
  • Lysosomal disease
  • Miglustat
  • Niemann-Pick C
  • Patient advocacy
  • Rare disease
  • Therapy development
  • Translational medicine

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

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.

In: Orphanet Journal of Rare Diseases, Vol. 11, No. 1, 161, 12.01.2016.

Research output: Contribution to journalArticle

Walkley, SU, Davidson, CD, Jacoby, J, Marella, PD, Ottinger, EA, Austin, CP, Porter, FD, Vite, CH & Ory, DS 2016, 'Fostering collaborative research for rare genetic disease: The example of niemann-pick type C disease', Orphanet Journal of Rare Diseases, vol. 11, no. 1, 161. https://doi.org/10.1186/s13023-016-0540-x
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. In: Orphanet Journal of Rare Diseases. 2016 ; Vol. 11, No. 1.
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