What is it about?
Causes of blindness and deafness are usually diagnosed late. This leads to time loss in finding the best treatment strategies. In this article we describe what has been done to confirm the diagnosis in blind and deaf people in Russia and discuss the best ways of future treatment.
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Why is it important?
Genetic screening is important to confirm the causes of the disease to find better more appropriate treatment and gather patients in groups for international clinical trials participation in case of rare diseases.
Perspectives
Writing this article was a great pleasure as it has co-authors with whom I have had long standing collaborations. This article also leads to rare disease groups contacting me and ultimately to a greater involvement in rare disease research.
Marianna Ivanova
Oftalmic LLC
Read the Original
This page is a summary of: Genetic screening of Russian Usher syndrome patients toward selection for gene therapy, Ophthalmic Genetics, October 2018, Taylor & Francis,
DOI: 10.1080/13816810.2018.1532527.
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