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

被引：11

作者：

Walkley, Steven U. ^{[1
]}

Davidson, Cristin D. ^{[1
]}

Jacoby, Jonathan ^{[2
]}

Marella, Philip D. ^{[3
]}

Ottinger, Elizabeth A. ^{[4
]}

Austin, Christopher P. ^{[5
]}

Porter, Forbes D. ^{[6
]}

Vite, Charles H. ^{[7
]}

Ory, Daniel S. ^{[8
]}

机构：

[1] Albert Einstein Coll Med, Rose F Kennedy Intellectual & Dev Disabil Res Ctr, Dominick P Purpura Dept Neurosci, 1410 Pelham Pkwy South, Bronx, NY 10461 USA

[2] Hide & Seek Fdn Lysosomal Dis Res, 6475 East Pacific Coast Highway,Suite 466, Long Beach, CA 90803 USA

[3] Danas Angels Res Trust, 15 East Putnam Ave,117, Greenwich, CT 06830 USA

[4] NIH, Div PreClin Innovat, Natl Ctr Adv Translat Sci, Rockville, MD 20850 USA

[5] NIH, Natl Ctr Adv Translat Sci, Bethesda, MD 20817 USA

[6] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Translat Med, NIH, DHHS, Rm 5-2571,10CRC,10 Ctr Dr, Bethesda, MD 20892 USA

[7] Univ Penn, Sch Vet Med, Dept Clin Sci, 3800 Spruce St, Philadelphia, PA 19104 USA

[8] Washington Univ, Sch Med, Diabet Cardiovasc Dis Ctr, Box 8086,660 S Euclid Ave, St Louis, MO 63110 USA

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2016年 / 11卷

关键词：

Cyclodextrin; Collaborative science; Drug pipeline; Lysosomal disease; Miglustat; Niemann-Pick C; Patient advocacy; Rare disease; Therapy development; Translational medicine; MURINE MODEL; CHOLESTEROL; 2-HYDROXYPROPYL-BETA-CYCLODEXTRIN; ESTERIFICATION; GANGLIOSIDES; PROGRESSION; MUTATION; MOUSE; NPC1;

D O I：

10.1186/s13023-016-0540-x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：11

共 37 条

[21] A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele [J].