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
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
收藏
页码:219 / 222
页数:4
相关论文
共 24 条
[1]   Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding [J].
Ayme, Segolene ;
Bellet, Bertrand ;
Rath, Ana .
ORPHANET JOURNAL OF RARE DISEASES, 2015, 10
[2]   Genomic diagnosis for children with intellectual disability and/or developmental delay [J].
Bowling, Kevin M. ;
Thompson, Michelle L. ;
Amaral, Michelle D. ;
Finnila, Candice R. ;
Hiatt, Susan M. ;
Engel, Krysta L. ;
Cochran, J. Nicholas ;
Brothers, Kyle B. ;
East, Kelly M. ;
Gray, David E. ;
Kelley, Whitley V. ;
Lamb, Neil E. ;
Lose, Edward J. ;
Rich, Carla A. ;
Simmons, Shirley ;
Whittle, Jana S. ;
Weaver, Benjamin T. ;
Nesmith, Amy S. ;
Myers, Richard M. ;
Barsh, Gregory S. ;
Bebin, E. Martina ;
Cooper, Gregory M. .
GENOME MEDICINE, 2017, 9
[3]   Novel mobility test to assess functional vision in patients with inherited retinal dystrophies [J].
Chung, Daniel C. ;
McCague, Sarah ;
Yu, Zi-Fan ;
Thill, Satha ;
DiStefano-Pappas, Julie ;
Bennett, Jean ;
Cross, Dominique ;
Marshall, Kathleen ;
Wellman, Jennifer ;
High, Katherine A. .
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2018, 46 (03) :247-259
[4]   Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes [J].
De Benedetti, F. ;
Gattorno, M. ;
Anton, J. ;
Ben-Chetrit, E. ;
Frenkel, J. ;
Hoffman, H. M. ;
Kone-Paut, I. ;
Lachmann, H. J. ;
Ozen, S. ;
Simon, A. ;
Zeft, A. ;
Penades, I. Calvo ;
Moutschen, M. ;
Quartier, P. ;
Kasapcopur, O. ;
Shcherbina, A. ;
Hofer, M. ;
Hashkes, P. J. ;
Van der Hilst, J. ;
Hara, R. ;
Bujan-Rivas, S. ;
Constantin, T. ;
Gul, A. ;
Livneh, A. ;
Brogan, P. ;
Cattalini, M. ;
Obici, L. ;
Lheritier, K. ;
Speziale, A. ;
Junge, G. .
NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (20) :1908-1919
[5]  
de la Paz MP, 2017, RARE DIS EPIDEMIOLOG, V2nd
[6]   Data silos are undermining drug development and failing rare disease patients [J].
Denton, Nathan ;
Molloy, Monique ;
Charleston, Samantha ;
Lipset, Craig ;
Hirsch, Jonathan ;
Mulberg, Andrew E. ;
Howard, Paul ;
Marsh, Eric D. .
ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
[7]   An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm [J].
Dimmock, David P. ;
Clark, Michelle M. ;
Gaughran, Mary ;
Cakici, Julie A. ;
Caylor, Sara A. ;
Clarke, Christina ;
Feddock, Michele ;
Chowdhury, Shimul ;
Salz, Lisa ;
Cheung, Cynthia ;
Bird, Lynne M. ;
Hobbs, Charlotte ;
Wigby, Kristen ;
Farnaes, Lauge ;
Bloss, Cinnamon S. ;
Kingsmore, Stephen F. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (05) :942-952
[8]   Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity [J].
Farooq, Faheem ;
Mogayzel, Peter J. ;
Lanzkron, Sophie ;
Haywood, Carlton ;
Strouse, John J. .
JAMA NETWORK OPEN, 2020, 3 (03) :e201737
[9]   Strategic vision for improving human health at The Forefront of Genomics [J].
Green, Eric D. ;
Gunter, Chris ;
Biesecker, Leslie G. ;
Di Francesco, Valentina ;
Easter, Carla L. ;
Feingold, Elise A. ;
Felsenfeld, Adam L. ;
Kaufman, David J. ;
Ostrander, Elaine A. ;
Pavan, William J. ;
Phillippy, Adam M. ;
Wise, Anastasia L. ;
Dayal, Jyoti Gupta ;
Kish, Britny J. ;
Mandich, Allison ;
Wellington, Christopher R. ;
Wetterstrand, Kris A. ;
Bates, Sarah A. ;
Leja, Darryl ;
Vasquez, Susan ;
Gahl, William A. ;
Graham, Bettie J. ;
Kastner, Daniel L. ;
Liu, Paul ;
Rodriguez, Laura Lyman ;
Solomon, Benjamin D. ;
Bonham, Vence L. ;
Brody, Lawrence C. ;
Hutter, Carolyn M. ;
Manolio, Teri A. .
NATURE, 2020, 586 (7831) :683-692
[10]  
Groft S. C., 2013, Clinical Investigation, V3, P1015, DOI 10.4155/cli.13.101