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They've researched rare diseases, collected data from other families, recruited scientists, gone to medical conferences around the world and started funding scientists' experimental treatments.
Diseases collected by the tool are shown in table 1. Decision support is provided in the form of printed reports.
We train all the methods using all gene associations for 3209 OMIM diseases collected until August 2011.
The Delphi method was used to select, from the 80 chronic diseases collected, those most likely to impact on DS [ 16, 17].
However, we found a good concordance between the information on indicator diseases collected at enrolment and those reported in a self-administered questionnaire.
The strength of the study is that it uses clinical quality data for important diseases collected to a common definition for 96% of UK general practices.
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A specialist in fetal medicine, he meets with families who have a history of genetic diseases, collects blood samples and draws up the detailed family trees of his patients.
Like virtually every state, Texas routinely screens almost all newborns for rare diseases, collecting a few drops of blood at birth.
She has cared for over 600 pregnancies in women with rheumatic diseases, collecting information on these pregnancies initially in the Duke Autoimmunity in Pregnancy Registry and Repository, and now the Maternal Autoimmune Disease Research Alliance registry and repository.
Mobile phone metadata, automatically generated by our phones and recorded at large-scale by carriers, have the potential to fundamentally transform the way we fight diseases, collect official statistics, or design transportation systems.
An additional 54 clinical specimens from farms with respiratory disease collected in 2013 and 2014 were also screened by Real Time RT-PCR.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com