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Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non‐profit foundation
dc.contributor.authorMansfield, Brian C.
dc.contributor.authorYerxa, Benjamin R.
dc.contributor.authorBranham, Kari H.
dc.date.accessioned2020-10-01T23:30:56Z
dc.date.availableWITHHELD_12_MONTHS
dc.date.available2020-10-01T23:30:56Z
dc.date.issued2020-09
dc.identifier.citationMansfield, Brian C.; Yerxa, Benjamin R.; Branham, Kari H. (2020). "Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non‐profit foundation." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184(3): 838-845.
dc.identifier.issn1552-4868
dc.identifier.issn1552-4876
dc.identifier.urihttps://hdl.handle.net/2027.42/162760
dc.description.abstractThe Foundation Fighting Blindness is a 50‐year old 501c(3) non‐profit organization dedicated to supporting the development of treatments and cures for people affected by the inherited retinal diseases (IRD), a group of clinical diagnoses that include orphan diseases such as retinitis pigmentosa, Usher syndrome, and Stargardt disease, among others. Over $760 M has been raised and invested in preclinical and clinical research and resources. Key resources include a multi‐national clinical consortium, an international patient registry with over 15,700 members that is expanding rapidly, and an open access genetic testing program that provides no cost comprehensive genetic testing to people clinically diagnosed with an IRD living in the United States. These programs are described with particular focus on the challenges and outcomes of establishing the registry and genetic testing program.
dc.publisherJohn Wiley & Sons, Inc.
dc.subject.otherclinical consortium
dc.subject.otherventure philanthropy
dc.subject.otherpatient registry
dc.subject.otheropen access genetic testing
dc.subject.otherinherited retinal diseases
dc.titleImplementation of a registry and open access genetic testing program for inherited retinal diseases within a non‐profit foundation
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelHuman Genetics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/162760/2/ajmgc31825_am.pdfen_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/162760/1/ajmgc31825.pdfen_US
dc.identifier.doi10.1002/ajmg.c.31825
dc.identifier.sourceAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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