A team of scientists from Sechenov University together with their colleagues from leading scientific centers of Moscow and India described a number of genetic mutations causing Usher syndrome (inherited deaf-blindness). They found previously unstudied unique mutations in investigated DNA regions. The results of the study were published in the Ophthalmic Genetics journal.

"While analyzing the databases of mutations associated with Usher syndrome we understood that some of the mutations we had found were completely new. Unfortunately, they would not help recognize the disease on earlier stages or with higher probability, but would be able to confirm the diagnosis. The search for new genetic variations associated with the syndrome may help identify new targets for specific therapy. However, this is not happening in the near future," said Prof. Dmitry Zaletaev, a chief research associate at the laboratory of Medical Genetics, Sechenov University.

Among the participants of the study were scientists from India, employees of Ophthalmic Ltd, Center for Ophthalmology of the Federal Medical and Biological Agency of Russia, Research Centre for Medical Genetics, Institute of General Pathology and Pathophysiology, and many others. The work was carried out with the support of So-Edinenie Deaf-Blind Support Foundation and Sensor-Tech Laboratory.

The press release you may find at the EurekAlert!Global Source for Science News.