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27/05/2010

More than 100 experts will discuss on Usher Syndrome at the Science Museum


More than 100 experts and researchers will participate in the meeting, organized by the Cátedra Santiago Grisolía through the City of Arts and Sciences Foundation in collaboration with Drs William J. Kimberling of the University of Iowa and the Center for the Study and Treatment of Usher Syndrome at the Boys Town National Research Hospital of Nebraska (USA) and José M. Millán of the Genetics Unit of La Fe University Hospital in Valencia.

Until next 29th May, the Science Museum will be hosting the International Symposium on Usher Syndrome, the world’s leading cause of hereditary deafblindness, considered a rare disease that affects only 4 of every 100,000 people.

The opening session was attended by the Health Planning, Assessment and Research General Manager, Pilar Viedma, the City of Arts and Sciences Manager, Pedro García Ribot, and the Scientific Committee Members, Drs Kimberling and José Maria Millán.

The symposium will look at the treatment and molecular diagnosis of the disorder as things stand today and in the future, presenting recent advances in relation to the syndrome’s molecular pathogenesis and in the complex mechanisms that form the basis of sight and hearing.

The symposium will highlight the latest advances and strategies for rehabilitation and therapy in relation to this disorder, which causes children to be born deaf and to gradually lose their sight. Over the last few decades, evidence has emerged of a high rate of clinical and genetic heterogeneousness and it has been demonstrated that at least nine genes are implicated in the disease.

Usher syndrome was first described by Albrecht von Graefe in 1858 although its hereditary nature was determined by Charles H. Usher in 1935. It is a rare disorder that is defined by its link to neurosensory hypoacusis and damaged vision due to retinitis pigmentosa and sometimes, vestibular dysfunction.

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