A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States

被引：18

作者：

Halley, Meghan C. ^{[1
]}

Smith, Hadley Stevens ^{[2
]}

Ashley, Euan A. ^{[3
]}

Goldenberg, Aaron J. ^{[4
]}

Tabor, Holly K. ^{[1
,5
]}

机构：

[1] Stanford Univ, Sch Med, Stanford Ctr Biomed Eth, Stanford, CA 94305 USA

[2] Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA

[3] Stanford Univ, Dept Genet, Sch Med, Div Cardiovasc Med, Stanford, CA 94305 USA

[4] Case Western Reserve Univ, Sch Med, Dept Bioeth, Cleveland, OH USA

[5] Stanford Univ, Dept Med, Sch Med, Stanford, CA 94305 USA

来源：

NATURE GENETICS | 2022年 / 54卷 / 03期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/s41588-022-01027-w

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

To build a more efficient, equitable and sustainable approach to rare disease research in the United States, we must prioritize integrated research infrastructure and approaches that focus on understanding connections across rare diseases.

引用

页码：219 / 222

页数：4

共 24 条

[21] Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness [J].

Stark, Zornitza ;

Schofield, Deborah ;

Martyn, Melissa ;

Rynehart, Luke ;

Shrestha, Rupendra ;

Alam, Khurshid ;

Lunke, Sebastian ;

Tan, Tiong Y. ;

Gaff, Clara L. ;

White, Susan M. .

GENETICS IN MEDICINE, 2019, 21 (01) :173-180

[22]

Tabor Holly K, 2018, AMA J Ethics, V20, pE834, DOI 10.1001/amajethics.2018.834

[23] Therapies for rare diseases: therapeutic modalities, progress and challenges ahead [J].

Tambuyzer, Erik ;

Vandendriessche, Benjamin ;

Austin, Christopher P. ;

Brooks, Philip J. ;

Larsson, Kristina ;

Needleman, Katherine I. Miller ;

Valentine, James ;

Davies, Kay ;

Groft, Stephen C. ;

Preti, Robert ;

Oprea, Tudor I. ;

Prunotto, Marco .

NATURE REVIEWS DRUG DISCOVERY, 2020, 19 (02) :93-111

[24] MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome [J].

Wang, Julia ;

Al-Ouran, Rami ;

Hu, Yanhui ;

Kim, Seon-Young ;

Wan, Ying-Wooi ;

Wangler, Michael F. ;

Yamamoto, Shinya ;

Chao, Hsiao-Tuan ;

Comjean, Aram ;

Mohr, Stephanie E. ;

Perrimon, Norbert ;

Liu, Zhandong ;

Bellen, Hugo J. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (06) :843-853

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