Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery
Name
Grandey-2016-Transient climate.pdf
Size
3.27 MB
Format
Adobe PDF
Checksum (MD5)
1188949850df4816733d2076d914dd17
Author(s)
Backeljauw, Philippe F.
Bondy, Carolyn
Chernausek, Steven D.
Cernich, Joseph T.
Cole, David A.
Fasciano, Laura P.
Foodim, Joan
Hawley, Scott
Hong, David S.
Knickmeyer, Rebecca C.
Date Issued
August 2015
Journal
American Journal of Medical Genetics Part A
Publisher
Wiley Blackwell
Citation
Backeljauw, Philippe F.; Bondy, Carolyn; Chernausek, Steven D.; Cernich, Joseph T.; Cole, David A.; Fasciano, Laura P.; Foodim, Joan, et al. “Proceedings from the Turner Resource Network Symposium: The Crossroads of Health Care Research and Health Care Delivery.” American Journal of Medical Genetics Part A 167, no. 9 (April 2015): 1962–1971. © 2015 Wiley Periodicals, Inc
Version
Final published version
Abstract
Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural “Turner Resource Network (TRN) Symposium” brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN:
1. inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome;
2. investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population.
MIT Department
Massachusetts Institute of Technology. Department of Biology
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Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use.
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DOI of Published Version
https://doi.org/10.1002/ajmg.a.37121
