{"id":"https://openalex.org/W2802103191","doi":null,"title":"2011 Report on the State of the Art of Rare Disease Activities in Europe of the European Union Committee of Experts on Rare Diseases - Part I: Overview of Rare Disease Activities in Europe and Key Developments in 2010 (United Kingdom)","display_name":"2011 Report on the State of the Art of Rare Disease Activities in Europe of the European Union Committee of Experts on Rare Diseases - Part I: Overview of Rare Disease Activities in Europe and Key Developments in 2010 (United Kingdom)","publication_year":2011,"publication_date":"2011-07-01","ids":{"openalex":"https://openalex.org/W2802103191","mag":"2802103191"},"language":"en","primary_location":{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/8263749f-5dad-413e-850f-fb9622b564db","doi":null,"is_oa":false,"landing_page_url":"https://research.manchester.ac.uk/en/publications/8263749f-5dad-413e-850f-fb9622b564db","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/report"},"volume":null,"type":"report","is_traditional":false,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076541018","display_name":"Dian Donnai","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dian Donnai","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032506101","display_name":"I. Gomez-Paramio","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I. Gomez-Paramio","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Stephen G. Nutt","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stephen G. Nutt","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110131604","display_name":"E. G. Jessop","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. G. Jessop","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071357877","display_name":"A. Davis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Davis","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002737978","display_name":"Kyle Dack","orcid":"https://orcid.org/0000-0003-0319-590X","observed_orcids":["https://orcid.org/0000-0003-0319-590X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kyle Dack","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"J\u00fcrgen Deller","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J\u00fcrgen Deller","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"James D. Westwood","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"James D. Westwood","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047780786","display_name":"A. Devereau","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Devereau","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110448858","display_name":"S\u00e9gol\u00e8ne Aym\u00e9","orcid":"https://orcid.org/0000-0003-3366-9061","observed_orcids":["https://orcid.org/0000-0003-3366-9061"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S\u00e9gol\u00e8ne Aym\u00e9","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5057485975","display_name":"Charlotte Rodwell","orcid":"https://orcid.org/0000-0001-9057-1314","observed_orcids":["https://orcid.org/0000-0001-9057-1314"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Charlotte Rodwell","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9057-1314","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9448000192642212,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9448000192642212,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13896","display_name":"Health Services Management and Policy","score":0.0038999998942017555,"subfield":{"id":"https://openalex.org/subfields/3600","display_name":"General Health Professions"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13417","display_name":"Biomedical Ethics and Regulation","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/2910","display_name":"Issues, ethics and legal aspects"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.9990000128746033},{"id":"https://openalex.org/keywords/rare-disease-policy","display_name":"rare disease policy","score":0.781000018119812},{"id":"https://openalex.org/keywords/rare-disease-research","display_name":"rare disease research","score":0.6430000066757202},{"id":"https://openalex.org/keywords/health-policy-making","display_name":"health policy development","score":0.4020000100135803}],"concepts":[{"id":"https://openalex.org/C2910001868","wikidata":"https://www.wikidata.org/wiki/Q458","display_name":"European union","level":2,"score":0.8893260955810547},{"id":"https://openalex.org/C3020782553","wikidata":"https://www.wikidata.org/wiki/Q8880","display_name":"European commission","level":3,"score":0.7919613122940063},{"id":"https://openalex.org/C2776034101","wikidata":"https://www.wikidata.org/wiki/Q1509347","display_name":"Commission","level":2,"score":0.6056976914405823},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.594031810760498},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.5647024512290955},{"id":"https://openalex.org/C2985871740","wikidata":"https://www.wikidata.org/wiki/Q1637368","display_name":"Task force","level":2,"score":0.5098804235458374},{"id":"https://openalex.org/C2777861868","wikidata":"https://www.wikidata.org/wiki/Q1646605","display_name":"Member state","level":4,"score":0.4632810950279236},{"id":"https://openalex.org/C48103436","wikidata":"https://www.wikidata.org/wiki/Q599031","display_name":"State (computer science)","level":2,"score":0.4182603657245636},{"id":"https://openalex.org/C3019422483","wikidata":"https://www.wikidata.org/wiki/Q1646605","display_name":"Member states","level":3,"score":0.38798242807388306},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.36184048652648926},{"id":"https://openalex.org/C3116431","wikidata":"https://www.wikidata.org/wiki/Q31728","display_name":"Public administration","level":1,"score":0.35651886463165283},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.32908254861831665},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.24622806906700134},{"id":"https://openalex.org/C144133560","wikidata":"https://www.wikidata.org/wiki/Q4830453","display_name":"Business","level":0,"score":0.2036660611629486},{"id":"https://openalex.org/C155202549","wikidata":"https://www.wikidata.org/wiki/Q178803","display_name":"International trade","level":1,"score":0.13502287864685059},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.08628654479980469},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.06648531556129456},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/8263749f-5dad-413e-850f-fb9622b564db","doi":null,"is_oa":false,"landing_page_url":"https://research.manchester.ac.uk/en/publications/8263749f-5dad-413e-850f-fb9622b564db","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/report"},{"id":"mag:2802103191","doi":null,"is_oa":false,"landing_page_url":"https://www.escholar.manchester.ac.uk/uk-ac-man-scw:268886","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2886428302","https://openalex.org/W2887753944","https://openalex.org/W2785099415","https://openalex.org/W2791038874","https://openalex.org/W2809495289","https://openalex.org/W2117699268","https://openalex.org/W2010574785","https://openalex.org/W7095121118","https://openalex.org/W2047591428","https://openalex.org/W2091457338"],"abstract_inverted_index":{"This":[0],"document":[1],"has":[2],"been":[3],"produced":[4],"by":[5],"the":[6,10,19,31,35,44,60,67,74],"Scientific":[7,32],"Secretariat":[8,33],"of":[9,34,39,69,78],"European":[11,20,36,45,61,75],"Union":[12,37,62,76],"Committee":[13,38,77],"ofExperts":[14],"on":[15,73,80],"Rare":[16,22,47,81],"Diseases":[17,23,42,48,82],"(formerly":[18,43],"Commission":[21,46],"Task":[24,49],"Force)":[25,50],"through":[26],"theJoint":[27],"Action":[28,65],"to":[29],"Support":[30],"Experts":[40,79],"onRare":[41],"(N\u00b0":[51],"2008":[52],"22":[53],"91,Coordinator:":[54],"S\u00e9gol\u00e8ne":[55],"Aym\u00e9,":[56],"INSERM,":[57],"France),":[58],"within":[59],"Programme":[63],"ofCommunity":[64],"in":[66],"Field":[68],"Health.":[70],"More":[71],"information":[72],"can":[83],"be":[84],"found":[85],"atwww.eucerd.eu.":[86]},"counts_by_year":[{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2018-05-17T00:00:00"}