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Senses lost : the impossible dilemma of Usher Syndrome, and its possible solutions

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dc.contributor.advisor Russ Rymer. en_US
dc.contributor.author Telma, Kate en_US
dc.contributor.other Massachusetts Institute of Technology. Graduate Program in Science Writing. en_US
dc.date.accessioned 2017-12-20T18:16:01Z
dc.date.available 2017-12-20T18:16:01Z
dc.date.copyright 2017 en_US
dc.date.issued 2017 en_US
dc.identifier.uri http://hdl.handle.net/1721.1/112884
dc.description Thesis: S.M. in Science Writing, Massachusetts Institute of Technology, Department of Comparative Media Studies/Writing, 2017. en_US
dc.description Cataloged from PDF version of thesis. en_US
dc.description Includes bibliographical references (pages 21-27). en_US
dc.description.abstract Usher Syndrome is an inherited disease that leads to the progressive loss of hearing and vision (retinitis pigmentosa). Increasingly, genetic testing, either through panels or whole exome sequencing, lets people know which of the twelve genes identified to date is responsible for the loss of their senses. Researchers are using these genetic ascertainment data to identify patients for clinical trials: There is no approved treatment for retinitis pigmentosa. A philanthropically-funded translational research program led by Dr. Edwin Stone at the University of Iowa seeks to provide an at-cost personalized gene therapy for everybody with Ushers, regardless how rare. His efforts focus transfecting patient-derived induced pluripotent stem cells with a viral gene vector to replace the broken Ushers gene. Meanwhile, a phase 1/11 clinical trial led by Dr. Eric Pierce and ReNeuron takes a different approach-injecting participants' subretinal space with healthy donor stem cells. Critically, both of these methods risk remaining vision. This is the story of two people with Ushers -- an infant with MYO7A -- associated Ushers who was genetically diagnosed in her first year of life, and a retired man who likely suffers from USH2A-associated Ushers, whose life experience exemplifies the condition, but whose specific genetic mutation has never been identified. Both have opted for cochlear implants to improve their hearing, and both work to adapt each day to their changing senses. en_US
dc.description.statementofresponsibility by Kate Telma. en_US
dc.format.extent 27 pages en_US
dc.language.iso eng en_US
dc.publisher Massachusetts Institute of Technology en_US
dc.rights MIT theses are protected by copyright. They may be viewed, downloaded, or printed from this source but further reproduction or distribution in any format is prohibited without written permission. en_US
dc.rights.uri http://dspace.mit.edu/handle/1721.1/7582 en_US
dc.subject Comparative Media Studies. en_US
dc.subject Graduate Program in Science Writing. en_US
dc.title Senses lost : the impossible dilemma of Usher Syndrome, and its possible solutions en_US
dc.title.alternative Impossible dilemma of Usher Syndrome, and its possible solutions en_US
dc.type Thesis en_US
dc.description.degree S.M. in Science Writing en_US
dc.contributor.department Massachusetts Institute of Technology. Department of Comparative Media Studies. en_US
dc.contributor.department Massachusetts Institute of Technology. Graduate Program in Science Writing. en_US
dc.identifier.oclc 1015182914 en_US


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