Faults in three different genes may lead to Usher Syndrome 2. USH2A, ADGRV1 (= USH2C) and WHRN (= USH2D). The USH2D gene can, apart from mutations leading to Usher Syndrome, also have mutations that cause non-syndromic loss of hearing. People suffering from non-syndromic loss of hearing are hard of hearing,
A major subsidy, making available a treatment for patients suffering from imbalance problems in a shorter time Source: Maastricht UMC+ The introduction of the artificial organ of balance has come one step nearer closer again, thanks to a subsidy of over € 700,000 from ZonMw, Health Holland and the Heinsius Houbolt Foundation.
Usher Syndrome knows six different genes (USH 1B, 1C, 1D, 1F, 1G and 1J) and many different mutations. Additional information about these genes, the Usher proteins involved and the various mutations in these USH1 genes are to be found in ‘Usher Syndrome and DNA diagnostics’. Which developments, innovations and studies
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
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