Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.

LeBlanc, Kimberly; Kelley, Emily G; Nagy, Anna; Bater, Jorick; Berro, Tala; McGuinness, Molly A; Studwell, Courtney; Might, Matthew

LeBlanc, Kimberly; Kelley, Emily G; Nagy, Anna; Bater, Jorick; Berro, Tala; McGuinness, Molly A; Studwell, Courtney; Might, Matthew.

Affiliation

LeBlanc K; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. kimberly_leblanc@hms.harvard.edu.
Kelley EG; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Nagy A; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Bater J; Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Berro T; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
McGuinness MA; Bass Center for Childhood Cancer and Blood Diseases, Stanford Children's Health, Palo Alto, CA, USA.
Studwell C; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
Might M; Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, Birmingham, AL, USA.

Orphanet J Rare Dis ; 16(1): 210, 2021 05 10.

Article in En | MEDLINE | ID: mdl-33971915

Subject(s)
Key words

Data sharing; Diagnostic odyssey; Gene discovery; Matchmaking; Rare disease

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rare Diseases / Undiagnosed Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido

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