scholarly journals Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research

2008 ◽  
Vol 34 (9) ◽  
pp. 690-694 ◽  
Author(s):  
M Ponder ◽  
H Statham ◽  
N Hallowell ◽  
J A Moon ◽  
M Richards ◽  
...  
Author(s):  
Diane L. Kendall

Purpose The purpose of this article was to extend the concepts of systems of oppression in higher education to the clinical setting where communication and swallowing services are delivered to geriatric persons, and to begin a conversation as to how clinicians can disrupt oppression in their workplace. Conclusions As clinical service providers to geriatric persons, it is imperative to understand systems of oppression to affect meaningful change. As trained speech-language pathologists and audiologists, we hold power and privilege in the medical institutions in which we work and are therefore obligated to do the hard work. Suggestions offered in this article are only the start of this important work.


1995 ◽  
Vol 38 (5) ◽  
pp. 1126-1142 ◽  
Author(s):  
Jeffrey W. Gilger

This paper is an introduction to behavioral genetics for researchers and practioners in language development and disorders. The specific aims are to illustrate some essential concepts and to show how behavioral genetic research can be applied to the language sciences. Past genetic research on language-related traits has tended to focus on simple etiology (i.e., the heritability or familiality of language skills). The current state of the art, however, suggests that great promise lies in addressing more complex questions through behavioral genetic paradigms. In terms of future goals it is suggested that: (a) more behavioral genetic work of all types should be done—including replications and expansions of preliminary studies already in print; (b) work should focus on fine-grained, theory-based phenotypes with research designs that can address complex questions in language development; and (c) work in this area should utilize a variety of samples and methods (e.g., twin and family samples, heritability and segregation analyses, linkage and association tests, etc.).


Author(s):  
Terence D. Keel

The proliferation of studies declaring that there is a genetic basis to health disparities and behavioral differences across the so-called races has encouraged the opponents of social constructionism to assert a victory for scientific progress over political correctness. I am not concerned in this essay with providing a response to critics who believe races are expressions of innate genetic or biological differences. Instead, I am interested in how genetic research on human differences has divided social constructionists over whether the race concept in science can be used for social justice and redressing embodied forms of discrimination. On one side, there is the position that race is an inherently flawed concept and that its continued use by scientists, medical professionals, and even social activists keeps alive the notion that it has a biological basis. On the other side of this debate are those who maintain a social constructionist position yet argue that not all instances of race in science stem from discriminatory politics or the desire to prove that humans belong to discrete biological units that can then be classified as superior or inferior. I would like to shift this debate away from the question of whether race is real and move instead toward thinking about the intellectual commitments necessary for science to expose past legacies of discrimination.


GYNECOLOGY ◽  
2018 ◽  
Vol 20 (4) ◽  
pp. 9-11 ◽  
Author(s):  
V V Sobolev ◽  
Z A Nevozinskaya ◽  
A G Soboleva ◽  
I M Korsunskaya

The review is devoted to genetic research in cancer of the vulva. In genetic changes, the mutation irreversibly changes the nucleotide sequence of DNA, or the number of copies of chromosomes changes per cell. In epigenetics, the nucleotide sequence remains unchanged, but gene activity is regulated by methylation of DNA or modification of histones. Most of the studies analyzed are devoted to the study of mutations in the TP53 gene. Many studies indicate that somatic mutations are more common in HPV-negative than in HPV-positive patients. Epigenetic studies in the main devoted to hypermethylation. The gene CDKN2A is most often studied in epigenetic terms. For most of the studied genes, hypermethylation occurs more often in squamous cell carcinoma of the vulva than in the precursors.


2020 ◽  
Author(s):  
D. N. Sergeev ◽  
I. Y. Kozachenko ◽  
M. A. Bolkov ◽  
P. A. Larionov ◽  
I. A. Tuzankina ◽  
...  

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