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Lysosomal storage disorders: from basic science to public health

Labilloy, Anatália (2013) Lysosomal storage disorders: from basic science to public health. Master Essay, University of Pittsburgh.

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According to the first Principle of the Ethical Practice of Public Health by the Public Health Leadership Society, “Humans have a right to the resources necessary for health.” When dealing with rare inheritable conditions, oftentimes disease mechanisms remain largely unknown. The uniqueness of rare conditions render healthcare professionals unaware of their existence or of ways to deliver best medical care adapted to individual patients’ needs. Lysosomal Storage Disorders constitute a group of more than 50 rare heritable conditions that share some pathological and biochemical features and result in significant morbidity and early death. Most of the pathophysiological aspects of individual disorders of this group remain uncharacterized. Advances in clinical development of therapies in the past two decades have improved clinical outcomes for patients with some of these diseases, but progress still needs to be made for better management of some of the complications of these disorders. The cost associated with some of these therapeutic options still represents a limiting factor to access, especially in developing countries. This study’s primary aim was to foster basic science research in the field of lysosomal storage disorders by developing and characterizing a cell model for Fabry disease that can be used to understand disease pathogenesis for drug development. An additional aim was to develop a strategic plan for a public health genetics program with focus on Lysosomal Storage Disorders in an underprivileged state in a developing country. This study’s public health significance lies in the continuation of efforts to understand disease mechanisms, which potentially allow development of new therapeutic approaches through basic and clinical science research. In addition, efforts to increase awareness of these disorders among healthcare professionals, and to integrate research findings into clinical practice, fostering the delivery of evidence-based medical care in the field are of public health relevance and necessary to improve health of patients with Lysosomal Storage Disorders.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Labilloy, Anatáliaand101@pitt.eduAND101
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairFinegold, Daviddnf@pitt.eduDNFUNSPECIFIED
Committee MemberCuenco, Karenktc14@pitt.eduKTC14UNSPECIFIED
Date: 18 April 2013
Date Type: Submission
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Publisher: University of Pittsburgh
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: Yes
Date Deposited: 06 May 2015 17:41
Last Modified: 07 Feb 2023 12:57


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