Genetic testing in translational ophthalmology
نویسندگان
چکیده
منابع مشابه
Translational Science in Ophthalmology
Over the past decade, a new discipline in biomedical research has emerged. Translational science, as it has been termed, is concerned with the application of laboratory or “bench” science to the diagnosis and treatment of human diseases. The importance and potential impact of this new discipline for collaboration, education, funding and public interest have been widely discussed.1 Moreover; the...
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A28 year old man with retinitis pigmentosa (RP) presents with his 4 year old daughter who is afraid of the dark and is bed wetting. He would like his daughter to have a DNA test to determine whether she has RP. The man was diagnosed with RP at age 7 years after his parents noted nyctalopia and he had a confirmatory electroretinogram (ERG). The man’s father was diagnosed at age 30 years, while t...
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Genetic testing can make a very positive impact on individuals and families affected with inherited eye disease in a number of ways. When properly performed, interpreted, and acted on, genetic tests can improve the accuracy of diagnoses and prognoses, can improve the accuracy of genetic counseling, can reduce the risk of disease occurrence or recurrence in families at risk, and can facilitate t...
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The Mildred Weisenfeld award truly is a magnificent honor to have been bestowed on me. Self-consciously, I can’t deny the suitability of the honor, even if the merit in my case can be questioned, and I warm to the task of explaining its aptness. Mildred Weisenfeld, a retinitis pigmentosa sufferer from her teens, is known to the ARVO community for her unstinting and visionary energy in fund-rais...
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ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.01