The NIH Undiagnosed Diseases Program: Lessons Learned
Gahl and Tifft talk about the the National Institutes of Health's (NIH's) Undiagnosed Diseases Program, which was launched in 2008 to address an unmet need in the US health care system, ie, the diagnosis of mysterious, often multisystem diseases. A prime mover in initiating the program was...
Gespeichert in:
| Veröffentlicht in: | JAMA : the journal of the American Medical Association 2011-05, Vol.305 (18), p.1904-1905 |
|---|---|
| Hauptverfasser: | , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1905 |
|---|---|
| container_issue | 18 |
| container_start_page | 1904 |
| container_title | JAMA : the journal of the American Medical Association |
| container_volume | 305 |
| creator | Gahl, William A Tifft, Cynthia J |
| description | Gahl and Tifft talk about the the National Institutes of Health's (NIH's) Undiagnosed Diseases Program, which was launched in 2008 to address an unmet need in the US health care system, ie, the diagnosis of mysterious, often multisystem diseases. A prime mover in initiating the program was the recognition by the NIH Office of Rare Diseases Research that it took one to five years to reach a proper diagnosis for 33% of patients with rare disorders and more than five years for 15% of these patients. Moreover, at least 6% of the inquiries to the Genetic and Rare Diseases Information Center were from individuals still seeking a diagnosis. A second critical motivation for establishing the program was to discover new diseases that would provide medically relevant insights into biochemistry, physiology, and cell biology. |
| doi_str_mv | 10.1001/jama.2011.613 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_866251013</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><ama_id>899789</ama_id><sourcerecordid>866251013</sourcerecordid><originalsourceid>FETCH-LOGICAL-a293t-2013ea1e51c2da296c324a6a8508f3f9dea0b9721262b46df05340f37f53b2d33</originalsourceid><addsrcrecordid>eNpdkL1PwzAQxS0EoqUwMrCgiIUpxeeLHZsNlY9WqoChnSMndkqqJgG7GfjvcWjLwC1Puvvdu9Mj5BLoGCiFu7Wu9ZhRgLEAPCJD4Chj5EoekyGlSsZpIpMBOfN-TUMBpqdkwIBzyRkOCV982Oh1No2Wjan0qmm9NdFj5a321kfvrl05Xd9Hc-t92_ig2jXWnJOTUm-8vdjriCyfnxaTaTx_e5lNHuaxZgq3cXgLrQbLoWAmtESBLNFCS05liaUyVtNcpQyYYHkiTEk5JrTEtOSYM4M4Irc730_XfnXWb7O68oXdbHRj285nUgjGIVwJ5M0_ct12rgnPBUgqwAQgQPEOKlzrvbNl9umqWrvvDGjWp5n1aWZ9mpn4Nb3em3Z5bc0ffYgvAFc7oF87TKVSqVT4A_BmdWI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>868913411</pqid></control><display><type>article</type><title>The NIH Undiagnosed Diseases Program: Lessons Learned</title><source>MEDLINE</source><source>American Medical Association Journals</source><creator>Gahl, William A ; Tifft, Cynthia J</creator><creatorcontrib>Gahl, William A ; Tifft, Cynthia J</creatorcontrib><description>Gahl and Tifft talk about the the National Institutes of Health's (NIH's) Undiagnosed Diseases Program, which was launched in 2008 to address an unmet need in the US health care system, ie, the diagnosis of mysterious, often multisystem diseases. A prime mover in initiating the program was the recognition by the NIH Office of Rare Diseases Research that it took one to five years to reach a proper diagnosis for 33% of patients with rare disorders and more than five years for 15% of these patients. Moreover, at least 6% of the inquiries to the Genetic and Rare Diseases Information Center were from individuals still seeking a diagnosis. A second critical motivation for establishing the program was to discover new diseases that would provide medically relevant insights into biochemistry, physiology, and cell biology.</description><identifier>ISSN: 0098-7484</identifier><identifier>EISSN: 1538-3598</identifier><identifier>DOI: 10.1001/jama.2011.613</identifier><identifier>PMID: 21558523</identifier><identifier>CODEN: JAMAAP</identifier><language>eng</language><publisher>United States: American Medical Association</publisher><subject>Adult ; Child ; Diagnosis ; Disease ; Disease prevention ; Family Health ; Female ; Health care ; Humans ; Male ; Medical diagnosis ; Middle Aged ; National Institutes of Health (U.S.) ; Nervous System Diseases - diagnosis ; Nervous System Diseases - etiology ; Oligonucleotide Array Sequence Analysis ; Physician-Patient Relations ; Program Development ; Rare Diseases - diagnosis ; Referral and Consultation ; United States</subject><ispartof>JAMA : the journal of the American Medical Association, 2011-05, Vol.305 (18), p.1904-1905</ispartof><rights>Copyright American Medical Association May 11, 2011</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://jamanetwork.com/journals/jama/articlepdf/10.1001/jama.2011.613$$EPDF$$P50$$Gama$$H</linktopdf><linktohtml>$$Uhttps://jamanetwork.com/journals/jama/fullarticle/10.1001/jama.2011.613$$EHTML$$P50$$Gama$$H</linktohtml><link.rule.ids>64,314,780,784,3340,27924,27925,76489,76492</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21558523$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gahl, William A</creatorcontrib><creatorcontrib>Tifft, Cynthia J</creatorcontrib><title>The NIH Undiagnosed Diseases Program: Lessons Learned</title><title>JAMA : the journal of the American Medical Association</title><addtitle>JAMA</addtitle><description>Gahl and Tifft talk about the the National Institutes of Health's (NIH's) Undiagnosed Diseases Program, which was launched in 2008 to address an unmet need in the US health care system, ie, the diagnosis of mysterious, often multisystem diseases. A prime mover in initiating the program was the recognition by the NIH Office of Rare Diseases Research that it took one to five years to reach a proper diagnosis for 33% of patients with rare disorders and more than five years for 15% of these patients. Moreover, at least 6% of the inquiries to the Genetic and Rare Diseases Information Center were from individuals still seeking a diagnosis. A second critical motivation for establishing the program was to discover new diseases that would provide medically relevant insights into biochemistry, physiology, and cell biology.</description><subject>Adult</subject><subject>Child</subject><subject>Diagnosis</subject><subject>Disease</subject><subject>Disease prevention</subject><subject>Family Health</subject><subject>Female</subject><subject>Health care</subject><subject>Humans</subject><subject>Male</subject><subject>Medical diagnosis</subject><subject>Middle Aged</subject><subject>National Institutes of Health (U.S.)</subject><subject>Nervous System Diseases - diagnosis</subject><subject>Nervous System Diseases - etiology</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Physician-Patient Relations</subject><subject>Program Development</subject><subject>Rare Diseases - diagnosis</subject><subject>Referral and Consultation</subject><subject>United States</subject><issn>0098-7484</issn><issn>1538-3598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkL1PwzAQxS0EoqUwMrCgiIUpxeeLHZsNlY9WqoChnSMndkqqJgG7GfjvcWjLwC1Puvvdu9Mj5BLoGCiFu7Wu9ZhRgLEAPCJD4Chj5EoekyGlSsZpIpMBOfN-TUMBpqdkwIBzyRkOCV982Oh1No2Wjan0qmm9NdFj5a321kfvrl05Xd9Hc-t92_ig2jXWnJOTUm-8vdjriCyfnxaTaTx_e5lNHuaxZgq3cXgLrQbLoWAmtESBLNFCS05liaUyVtNcpQyYYHkiTEk5JrTEtOSYM4M4Irc730_XfnXWb7O68oXdbHRj285nUgjGIVwJ5M0_ct12rgnPBUgqwAQgQPEOKlzrvbNl9umqWrvvDGjWp5n1aWZ9mpn4Nb3em3Z5bc0ffYgvAFc7oF87TKVSqVT4A_BmdWI</recordid><startdate>20110511</startdate><enddate>20110511</enddate><creator>Gahl, William A</creator><creator>Tifft, Cynthia J</creator><general>American Medical Association</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QL</scope><scope>7QP</scope><scope>7TK</scope><scope>7TS</scope><scope>7U7</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20110511</creationdate><title>The NIH Undiagnosed Diseases Program: Lessons Learned</title><author>Gahl, William A ; Tifft, Cynthia J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-a293t-2013ea1e51c2da296c324a6a8508f3f9dea0b9721262b46df05340f37f53b2d33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adult</topic><topic>Child</topic><topic>Diagnosis</topic><topic>Disease</topic><topic>Disease prevention</topic><topic>Family Health</topic><topic>Female</topic><topic>Health care</topic><topic>Humans</topic><topic>Male</topic><topic>Medical diagnosis</topic><topic>Middle Aged</topic><topic>National Institutes of Health (U.S.)</topic><topic>Nervous System Diseases - diagnosis</topic><topic>Nervous System Diseases - etiology</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Physician-Patient Relations</topic><topic>Program Development</topic><topic>Rare Diseases - diagnosis</topic><topic>Referral and Consultation</topic><topic>United States</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gahl, William A</creatorcontrib><creatorcontrib>Tifft, Cynthia J</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Physical Education Index</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>JAMA : the journal of the American Medical Association</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gahl, William A</au><au>Tifft, Cynthia J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The NIH Undiagnosed Diseases Program: Lessons Learned</atitle><jtitle>JAMA : the journal of the American Medical Association</jtitle><addtitle>JAMA</addtitle><date>2011-05-11</date><risdate>2011</risdate><volume>305</volume><issue>18</issue><spage>1904</spage><epage>1905</epage><pages>1904-1905</pages><issn>0098-7484</issn><eissn>1538-3598</eissn><coden>JAMAAP</coden><abstract>Gahl and Tifft talk about the the National Institutes of Health's (NIH's) Undiagnosed Diseases Program, which was launched in 2008 to address an unmet need in the US health care system, ie, the diagnosis of mysterious, often multisystem diseases. A prime mover in initiating the program was the recognition by the NIH Office of Rare Diseases Research that it took one to five years to reach a proper diagnosis for 33% of patients with rare disorders and more than five years for 15% of these patients. Moreover, at least 6% of the inquiries to the Genetic and Rare Diseases Information Center were from individuals still seeking a diagnosis. A second critical motivation for establishing the program was to discover new diseases that would provide medically relevant insights into biochemistry, physiology, and cell biology.</abstract><cop>United States</cop><pub>American Medical Association</pub><pmid>21558523</pmid><doi>10.1001/jama.2011.613</doi><tpages>2</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0098-7484 |
| ispartof | JAMA : the journal of the American Medical Association, 2011-05, Vol.305 (18), p.1904-1905 |
| issn | 0098-7484 1538-3598 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_866251013 |
| source | MEDLINE; American Medical Association Journals |
| subjects | Adult Child Diagnosis Disease Disease prevention Family Health Female Health care Humans Male Medical diagnosis Middle Aged National Institutes of Health (U.S.) Nervous System Diseases - diagnosis Nervous System Diseases - etiology Oligonucleotide Array Sequence Analysis Physician-Patient Relations Program Development Rare Diseases - diagnosis Referral and Consultation United States |
| title | The NIH Undiagnosed Diseases Program: Lessons Learned |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-27T10%3A25%3A41IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20NIH%20Undiagnosed%20Diseases%20Program:%20Lessons%20Learned&rft.jtitle=JAMA%20:%20the%20journal%20of%20the%20American%20Medical%20Association&rft.au=Gahl,%20William%20A&rft.date=2011-05-11&rft.volume=305&rft.issue=18&rft.spage=1904&rft.epage=1905&rft.pages=1904-1905&rft.issn=0098-7484&rft.eissn=1538-3598&rft.coden=JAMAAP&rft_id=info:doi/10.1001/jama.2011.613&rft_dat=%3Cproquest_cross%3E866251013%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=868913411&rft_id=info:pmid/21558523&rft_ama_id=899789&rfr_iscdi=true |