Data Sharing in the Undiagnosed Diseases Network

Catherine A. Brownstein, Ingrid A. Holm, Rachel Ramoni, David B. Goldstein, Carlos Bacino, Brendan Lee, Christine Eng, Narayanan Veeraghavan, David Bernick, Catherine Brownstein, Ingrid Holm, Issac Kohane, Alexa McCray, Kimberly Splinter, Vandana Shashi, David Goldstein, Alan Beggs, Joseph Loscalzo, Calum MacRae, Edwin Silverman & 24 others Joan Stoler, David Sweetser, Tina Hambuch, Howard Jacob, Kim Strong, Elizabeth Worthey, Teri Manolio, John Mulvihill, Anastasia Wise, Euan Ashley, Jonathan Bernstein, Paul Fisher, Matt Wheeler, Katrina Dipple, Stan Nelson, Christina Palmer, Eric Vilain, Camilo Toro, David Adams, William Gahl, Cynthia Tifft, Rizwan Hamid, John Newman, John Phillips

Research output: Contribution to journalArticle

Abstract

The Undiagnosed Diseases Network (UDN) builds on the successes of the Undiagnosed Diseases Program at the National Institutes of Health (NIH UDP). Through support from the NIH Common Fund, a coordinating center, six additional clinical sites, and two sequencing cores comprise the UDN. The objectives of the UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by an enlarged community of investigators across the network; (2) facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and environmental exposure data; and (3) create an integrated and collaborative research community across multiple clinical sites, and among laboratory and clinical investigators, to investigate the pathophysiology of these rare diseases and to identify options for patient management. Broad-based data sharing is at the core of achieving these objectives, and the UDN is establishing the policies and governance structure to support broad data sharing.

Original languageEnglish (US)
Pages (from-to)985-988
Number of pages4
JournalHuman Mutation
Volume36
Issue number10
DOIs
StatePublished - Oct 1 2015

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Information Dissemination
Research Personnel
Uridine Diphosphate
Environmental Exposure
National Institutes of Health (U.S.)
Rare Diseases
Research
Patient Care

Keywords

  • Big data
  • Genetics
  • Genomics
  • Matchmaker Exchange
  • Personalized medicine
  • Precision medicine

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Brownstein, C. A., Holm, I. A., Ramoni, R., Goldstein, D. B., Bacino, C., Lee, B., ... Phillips, J. (2015). Data Sharing in the Undiagnosed Diseases Network. Human Mutation, 36(10), 985-988. https://doi.org/10.1002/humu.22840

Data Sharing in the Undiagnosed Diseases Network. / Brownstein, Catherine A.; Holm, Ingrid A.; Ramoni, Rachel; Goldstein, David B.; Bacino, Carlos; Lee, Brendan; Eng, Christine; Veeraghavan, Narayanan; Bernick, David; Brownstein, Catherine; Holm, Ingrid; Kohane, Issac; McCray, Alexa; Splinter, Kimberly; Shashi, Vandana; Goldstein, David; Beggs, Alan; Loscalzo, Joseph; MacRae, Calum; Silverman, Edwin; Stoler, Joan; Sweetser, David; Hambuch, Tina; Jacob, Howard; Strong, Kim; Worthey, Elizabeth; Manolio, Teri; Mulvihill, John; Wise, Anastasia; Ashley, Euan; Bernstein, Jonathan; Fisher, Paul; Wheeler, Matt; Dipple, Katrina; Nelson, Stan; Palmer, Christina; Vilain, Eric; Toro, Camilo; Adams, David; Gahl, William; Tifft, Cynthia; Hamid, Rizwan; Newman, John; Phillips, John.

In: Human Mutation, Vol. 36, No. 10, 01.10.2015, p. 985-988.

Research output: Contribution to journalArticle

Brownstein, CA, Holm, IA, Ramoni, R, Goldstein, DB, Bacino, C, Lee, B, Eng, C, Veeraghavan, N, Bernick, D, Brownstein, C, Holm, I, Kohane, I, McCray, A, Splinter, K, Shashi, V, Goldstein, D, Beggs, A, Loscalzo, J, MacRae, C, Silverman, E, Stoler, J, Sweetser, D, Hambuch, T, Jacob, H, Strong, K, Worthey, E, Manolio, T, Mulvihill, J, Wise, A, Ashley, E, Bernstein, J, Fisher, P, Wheeler, M, Dipple, K, Nelson, S, Palmer, C, Vilain, E, Toro, C, Adams, D, Gahl, W, Tifft, C, Hamid, R, Newman, J & Phillips, J 2015, 'Data Sharing in the Undiagnosed Diseases Network', Human Mutation, vol. 36, no. 10, pp. 985-988. https://doi.org/10.1002/humu.22840
Brownstein CA, Holm IA, Ramoni R, Goldstein DB, Bacino C, Lee B et al. Data Sharing in the Undiagnosed Diseases Network. Human Mutation. 2015 Oct 1;36(10):985-988. https://doi.org/10.1002/humu.22840
Brownstein, Catherine A. ; Holm, Ingrid A. ; Ramoni, Rachel ; Goldstein, David B. ; Bacino, Carlos ; Lee, Brendan ; Eng, Christine ; Veeraghavan, Narayanan ; Bernick, David ; Brownstein, Catherine ; Holm, Ingrid ; Kohane, Issac ; McCray, Alexa ; Splinter, Kimberly ; Shashi, Vandana ; Goldstein, David ; Beggs, Alan ; Loscalzo, Joseph ; MacRae, Calum ; Silverman, Edwin ; Stoler, Joan ; Sweetser, David ; Hambuch, Tina ; Jacob, Howard ; Strong, Kim ; Worthey, Elizabeth ; Manolio, Teri ; Mulvihill, John ; Wise, Anastasia ; Ashley, Euan ; Bernstein, Jonathan ; Fisher, Paul ; Wheeler, Matt ; Dipple, Katrina ; Nelson, Stan ; Palmer, Christina ; Vilain, Eric ; Toro, Camilo ; Adams, David ; Gahl, William ; Tifft, Cynthia ; Hamid, Rizwan ; Newman, John ; Phillips, John. / Data Sharing in the Undiagnosed Diseases Network. In: Human Mutation. 2015 ; Vol. 36, No. 10. pp. 985-988.
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