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Research Article

Defining Natural History: Assessment of the Ability of College Students to Aid in Characterizing Clinical Progression of Niemann-Pick Disease, Type C

  • Jenny Shin equal contributor,

    equal contributor Contributed equally to this work with: Jenny Shin, Katrina Epperson

    Affiliation: Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, United States of America

    X
  • Katrina Epperson equal contributor,

    equal contributor Contributed equally to this work with: Jenny Shin, Katrina Epperson

    Affiliation: Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, United States of America

    X
  • Nicole M. Yanjanin,

    Affiliation: Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, DHHS, Bethesda, Maryland, United States of America

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  • Jennifer Albus,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Laura Borgenheimer,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Natalie Bott,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Erin Brennan,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Daniel Castellanos,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Melissa Cheng,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Michael Clark,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Margaret Devany,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Courtney Ensslin,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Nina Farivari,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Shanik Fernando,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Lauren Gabriel,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Rani Gallardo,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Moriah Castleman,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Olimpia Gutierrez,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Allison Herschel,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Sarah Hodge,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Anne Horst,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Mary Howard,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Evan James,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Lindsey Jones,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Mary Kearns,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Mary Kelly,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Christine Kim,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Kinzie Kiser,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Gregory Klazura,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Chris Knoedler,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Emily Kolbus,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Lauren Lange,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Joan Lee,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Eileena Li,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Wei Lu,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Andrew Luttrell,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Emily Ly,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Katherine McKeough,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Brianna McSorley,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Catherine Miller,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Sean Mitchell,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Abbey Moon,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Kevin Moser,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Shane O'Brien,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Paula Olivieri,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Aaron Patzwahl,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Marie Pereira,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Craig Pymento,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Erin Ramelb,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Bryce Ramos,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Teresa Raya,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Stephen Riney,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Geoff Roberts,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Mark Robertshaw,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Frannie Rudolf,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Samuel Rund,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Stephanie Sansone,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Lindsay Schwartz,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Ryan Shay,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Edwin Siu,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Timothy Spear,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Catherine Tan,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Marisa Truong,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Mairaj Uddin,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Jennifer VanTrieste,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Omar Veloz,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

    X
  • Elizabeth White,

    Affiliation: NPC Consortium for Community-Based Assessment of Patient Records, Cape Town, South Africa

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  • Forbes D. Porter,

    Affiliation: Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, DHHS, Bethesda, Maryland, United States of America

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  • Kasturi Haldar mail

    khaldar@nd.edu

    Affiliation: Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, United States of America

    X
  • Published: October 03, 2011
  • DOI: 10.1371/journal.pone.0023666

Reader Comments (9)

Post a new comment on this article

So Much More Than a Natural History Study

Posted by mclark14 on 12 Oct 2011 at 02:01 GMT

The 'Developing Health Networks in Rare Diseases' course, which produced this paper, has taught more than just how to characterize Niemann-Pick Type C based on its symptomology and biochemistry. While knowing how the inability of the NPC protein to transport cholesterol within the cell translates into progressive neurodegenerative disease has proven both fascinating and stimulating, it is not the most important lesson learned in this course. Each week we were given a glimpse into the lives of the families, physicians, and researchers courageously fighting to end the tragedy of this disease. We have learned how families cope with the news that a loved one has an incurable rare disease and witnessed the courage those families demonstrate in standing with that loved one until his/her memory is all that remains. These experiences, combined with getting to meet and interact with the doctors and researchers who lead the charge in this battle has truly grounded my goal to become a physician. Knowing that we were helping free up the time and minds of physicians and researchers, in any way, by the results of this class so that they could focus more on patients was more rewarding than any grade I could have received. I simply can't speak enough about the positive aspects of the class. We were getting to think like doctors in a safe environment, which can only serve to make us all better clinicians in the future.
I concur with Ms. VanTrieste's observation that this kind of class should be offered elsewhere. The positive contributions of classes and studies like these should easily outweigh any operation costs in terms of student engagement, stimulating intellectual discussion, and promoting awareness of rare diseases like NPC.

No competing interests declared.