Lessons from a rare disease
Thesis (S.M. in Science Writing)--Massachusetts Institute of Technology, Dept. of Humanities, Graduate Program in Science Writing, 2009.
| Váldodahkki: | |
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| Eará dahkkit: | |
| Materiálatiipa: | Oahppočájánas |
| Giella: | eng |
| Almmustuhtton: |
Massachusetts Institute of Technology
2010
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| Liŋkkat: | http://hdl.handle.net/1721.1/54561 |
| _version_ | 1826212503976148992 |
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| author | Dutchen, Stephanie Lynn |
| author2 | Marcia Bartusiak. |
| author_facet | Marcia Bartusiak. Dutchen, Stephanie Lynn |
| author_sort | Dutchen, Stephanie Lynn |
| collection | MIT |
| description | Thesis (S.M. in Science Writing)--Massachusetts Institute of Technology, Dept. of Humanities, Graduate Program in Science Writing, 2009. |
| first_indexed | 2024-09-23T15:22:53Z |
| format | Thesis |
| id | mit-1721.1/54561 |
| institution | Massachusetts Institute of Technology |
| language | eng |
| last_indexed | 2024-09-23T15:22:53Z |
| publishDate | 2010 |
| publisher | Massachusetts Institute of Technology |
| record_format | dspace |
| spelling | mit-1721.1/545612022-02-07T15:57:24Z Lessons from a rare disease Dutchen, Stephanie Lynn Marcia Bartusiak. Massachusetts Institute of Technology. Graduate Program in Science Writing. Massachusetts Institute of Technology. Graduate Program in Science Writing MIT Program in Writing & Humanistic Studies Graduate Program in Science Writing. Thesis (S.M. in Science Writing)--Massachusetts Institute of Technology, Dept. of Humanities, Graduate Program in Science Writing, 2009. Cataloged from PDF version of thesis. Includes bibliographical references (p. 46-50). Progeria is a genetic aging disease of childhood affecting an estimated one in four to eight million births. Children with progeria experience a range of developmental disorders and aging-like symptoms, including wrinkled and discolored skin, stunted growth, visible veins, fat loss, hair loss, bone loss, joint contractures, and heart disease. Their average life expectancy is thirteen. There is currently no treatment or cure. The disease arises from a single nucleotide mutation in the LMNA gene, which makes proteins called lamins that comprise the inner lining of the nuclear wall. The mutation leads to the production of a misshapen lamin called progerin that builds up with time, disrupting nuclear shape and function. It is not yet clear how these changes lead to the disease's symptoms. Doctors probe potential treatments while researchers explore progeria's potential links to far more widespread health problems such as aging, heart disease, and laminopathies. Experts debate the extent to which progeria represents normal human aging on overdrive. It is seen as a segmental aging disorder, sharing only some symptoms with aging. Progeria may reveal insights into basic biological phenomena such as gene expression, DNA regulation, RNA splicing, protein processing, cellular aging, and stem cell differentiation. Instrumental to the discovery of the progeria gene and the growth of scientific interest since 2002 has been The Progeria Research Foundation. (cont.) The story of its creation when Sam Berns, son of doctors Leslie Gordon and Scott Berns, was diagnosed with progeria in 1998, is also the story of the birth of modern progeria research in the U.S. Research highlighted in this thesis includes progeria's cardiovascular complications in transgenic mice; the discovery that progeria's symptoms can be reversed; clinical trials testing farnesyltransferase inhibitors or FTIs, statins and bisphosphonates, and all three together; the search for a cure; and the presence of progerin in the skin cells of healthy people. by Stephanie Lynn Dutchen. S.M.in Science Writing 2010-04-28T17:01:48Z 2010-04-28T17:01:48Z 2009 2009 Thesis http://hdl.handle.net/1721.1/54561 567643214 eng M.I.T. theses are protected by copyright. They may be viewed from this source for any purpose, but reproduction or distribution in any format is prohibited without written permission. See provided URL for inquiries about permission. http://dspace.mit.edu/handle/1721.1/7582 50 p. application/pdf Massachusetts Institute of Technology |
| spellingShingle | Graduate Program in Science Writing. Dutchen, Stephanie Lynn Lessons from a rare disease |
| title | Lessons from a rare disease |
| title_full | Lessons from a rare disease |
| title_fullStr | Lessons from a rare disease |
| title_full_unstemmed | Lessons from a rare disease |
| title_short | Lessons from a rare disease |
| title_sort | lessons from a rare disease |
| topic | Graduate Program in Science Writing. |
| url | http://hdl.handle.net/1721.1/54561 |
| work_keys_str_mv | AT dutchenstephanielynn lessonsfromararedisease |