Title |
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
|
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Published in |
Orphanet Journal of Rare Diseases, December 2016
|
DOI | 10.1186/s13023-016-0540-x |
Pubmed ID | |
Authors |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 25% |
Unknown | 3 | 75% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 75% |
Scientists | 1 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 48 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 8 | 17% |
Researcher | 7 | 15% |
Student > Ph. D. Student | 4 | 8% |
Student > Bachelor | 4 | 8% |
Other | 3 | 6% |
Other | 8 | 17% |
Unknown | 14 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 13% |
Nursing and Health Professions | 5 | 10% |
Biochemistry, Genetics and Molecular Biology | 4 | 8% |
Pharmacology, Toxicology and Pharmaceutical Science | 4 | 8% |
Agricultural and Biological Sciences | 4 | 8% |
Other | 9 | 19% |
Unknown | 16 | 33% |