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Care for patients with ultra-rare disorders
Abstract There is increasing attention by policy maThere is increasing attention by policy makers and health authorities for rare disorders (by definition prevalence <1:2000). The attention for ultra-rare disorders (suggested prevalence one-thousandth of rare disorders, so <1:2,000,000) is very limited however. Here some aspects of organizing adequate care for individuals with ultra-rare disorders in a European setting are discussed.Individual ultra-rare disorders are by definition very uncommon but it can be calculated that as a group they form a considerable part of the total group of persons with rare disorders in the European Community (EC). Diagnostics and regular care for individuals with rare disorders is being arranged in national centres of expertise, but due to small individual numbers this is not possible for ultra-rare disorders. A secure database on the internet to which patients with unknown diagnoses from all countries within the EC can be uploaded using standardized terminology and including clinical pictures will be needed to allow for recognition of comparable phenotypes in patients and, thus, establishing rare diagnoses. Due to the large distances between the places where patients live and their large numbers regular care has to be provided locally and centres of excellence will have to function virtually through e-mail consulting. The use of wiki's that are accessible to patients and families to upload data will help to disseminate knowledge and experience. It will be extremely difficult to obtain sufficient funds for research in ultra-rare disorders. It is suggested that the many very small support groups for ultra-rare disorders organize themselves in umbrella organisations of such size that policy makers and grant providing bodies will consult them for their strategies. The role of individuals with ultra-rare disorders themselves, or their families, in obtaining access to all advantages modern medicine can provide will therefore be large.icine can provide will therefore be large.
Abstractsub There is increasing attention by policy maThere is increasing attention by policy makers and health authorities for rare disorders (by definition prevalence <1:2000). The attention for ultra-rare disorders (suggested prevalence one-thousandth of rare disorders, so <1:2,000,000) is very limited however. Here some aspects of organizing adequate care for individuals with ultra-rare disorders in a European setting are discussed.Individual ultra-rare disorders are by definition very uncommon but it can be calculated that as a group they form a considerable part of the total group of persons with rare disorders in the European Community (EC). Diagnostics and regular care for individuals with rare disorders is being arranged in national centres of expertise, but due to small individual numbers this is not possible for ultra-rare disorders. A secure database on the internet to which patients with unknown diagnoses from all countries within the EC can be uploaded using standardized terminology and including clinical pictures will be needed to allow for recognition of comparable phenotypes in patients and, thus, establishing rare diagnoses. Due to the large distances between the places where patients live and their large numbers regular care has to be provided locally and centres of excellence will have to function virtually through e-mail consulting. The use of wiki's that are accessible to patients and families to upload data will help to disseminate knowledge and experience. It will be extremely difficult to obtain sufficient funds for research in ultra-rare disorders. It is suggested that the many very small support groups for ultra-rare disorders organize themselves in umbrella organisations of such size that policy makers and grant providing bodies will consult them for their strategies. The role of individuals with ultra-rare disorders themselves, or their families, in obtaining access to all advantages modern medicine can provide will therefore be large.icine can provide will therefore be large.
Bibtextype article  +
Doi 10.1016/j.ejmg.2010.12.001  +
Has author Hennekam R.C.M. +
Has extra keyword Article + , Consultation + , Health care policy + , Human + , Knowledge + , Patient care + , Phenotype + , Rare disease + , Biomedical Research + , European Union + , Health Policy + , Health Services Accessibility + , Humans + , Rare Diseases +
Has keyword Centres of expertise + , E-mail consulting + , European community + , Rare disorders + , Support groups + , Total exome sequencing + , Ultra-rare disorders + , Virtual centres of expertise + , Wiki +
Issn 17697212  +
Issue 3  +
Language English +
Number of citations by publication 0  +
Number of references by publication 0  +
Pages 220–224  +
Published in European Journal of Medical Genetics +
Pubmed 21147279  +
Title Care for patients with ultra-rare disorders +
Type journal article  +
Volume 54  +
Year 2011 +
Creation dateThis property is a special property in this wiki. 7 November 2014 09:38:05  +
Categories Publications without license parameter  + , Publications without remote mirror parameter  + , Publications without archive mirror parameter  + , Publications without paywall mirror parameter  + , Journal articles  + , Publications without references parameter  + , Publications  +
Modification dateThis property is a special property in this wiki. 7 November 2014 09:38:05  +
DateThis property is a special property in this wiki. 2011  +
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