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Rare Diseases and International Collaboration: Sharing Knowledge for Global Impact

Rare diseases are medical conditions that affect a small percentage of the population

United statesLily ramseySpanish federation of rare diseasesOutcomes research rare disease special interest groupEuropean parliamentEuropean unionCenters for mendelian genomicsHealth work programmeEuropean reference networks ernsChinese organization for rare disordersOutcomes researchDiseases network internationalRare disease special interest groupInternational society for pharmacoeconomicsRare diseases clinical research networkEuropean union horizon

Rare diseases interview with Clincierge's CEO, Scott Gray

February will see the 16th annual Rare Disease Day which raises awareness of the more than 7,000 identified rare diseases worldwide.

Scott grayNational institutes of healthEuropean organization for rare diseasesRare diseases clinical research networkEuropean organizationRare diseasesNational institutesClinical developmentPreclinical researchContract manufacturing amp logisticsAtient centricityContract sales amp marketingData managementRare diseaseOrphan diseaseClinical trials

The kidney, in all its complexity, is captured in a new atlas

Years in the making, the atlas identifies 1.2 million “injury neighborhoods,” which could help uncover the causes of kidney disease.

United statesAnna grekaRafael kramannMatthias kretzlerNational centerRare diseases clinical research networkCardiovascular research at erasmus medical centreBroad institute of harvardHuman biomolecular atlas programUniversity of michigan medical schoolLaboratory of translational kidneyTranslational sciencesMichigan medical schoolAdvancing translationalTranslational kidneyCardiovascular research

Newborn screening facilitates early identification of infants with severe combined immunodeficiency

Introducing widespread screening of newborns for a deadly disease called severe combined immunodeficiency, or SCID, followed by early treatment boosted the five-year survival rate of children with the disorder from 73% before the advent of screening to 87% since, researchers report.

United statesUniversity of washingtonMonica thakarChristopher dvorakLuigi notarangeloHugh auchinclossDanielle ellisElie haddadFred hutchinson cancer centerNational heartNational institute of allergyTranslational sciencesBlood instituteBone marrow transplantation divisionAllergy divisionNational cancer institute

Screening newborns for deadly immune disease SCID saves lives

Screening newborns for deadly immune disease SCID saves lives
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United statesErict shelerHugh auchinclossDeficiency treatment consortiumUs airNational institutes of healthRare diseases clinical research networkNational institute of allergyStaff sgt ericNational instituteInfectious diseasesNational institutesDirector hugh auchinclossPrimary immune deficiency treatment consortiumNorth america