Usher Syndrome type 1 knows six different genes (USH 1B, 1C, 1D, 1F, 1G and 1J) and many different mutations. Additional information about these genes, the proteins involved and the various mutations in these USH1-genes is to be found in ‘Usher Syndrome and DNA diagnostics’. Which developments, studies and clinical
The hereditary material of each person is stored in the DNA. The DNA consists of many genes. Each gene contains the code for the production of a protein. Proteins are the building blocks of our bodies. Reading this code for producing a protein is a complicated process. Each gene has
People suffering from Usher Syndrome slowly become both deaf and blind. The loss of hearing is usually congenital, whereas the symptoms of the first eye problems show during childhood. Night-blindness and an ever narrowing field of vision are the first signs of the eye disease Retinitis Pigmentosa (RP). What actually
Three types of Usher Syndrome, over a thousand varieties At this moment, Usher Syndrome, also called the Syndrome of Usher, includes 10 different genes each of which are involved in the production of an Usher protein. The various genes are divided into three clinical images and indicated by a letter.
Research into the natural development of Usher Syndrome is essential in the phase of therapeutic scientific developments. Many and detailed eyesight and hearing measurements are to be recorded in order to be able to measure the effectiveness of a future therapy. Only after studies have demonstrated the effectiveness of a
Source: ProQR Therapeutics Maartje living with Usher syndrome At a glance, it’s hard to tell Maartje de Kok – 41, married and mother of four – has Usher syndrome. Though she manages her life very well, it took her a long time to get to that point. “I have learned
Photo fltr: Carol Brill, Deborah Heffernan, Liesbeth Geerits, Ivonne Bressers, Joanne White, Ariella Ellenkamp Stichting Ushersyndroom have had close ties with Usher patients from Ireland and the UK for some years. Patients with Usher syndrome in Ireland and the UK have no central organisation specifically for those with the disease. CUREUsher
‘CRUSH USH’ The Central Committee on Research Involving Human Subjects (CCMO) has given the Usher Syndrome expertise centre in Radboud UMC permission to actually start the CRUSH study. The CCMO assesses whether medical scientific research complies with the legal stipulations. With this the CCMO guarantees the protection of participants of