Text: Maartje de KokPhoto and video: Richard Brusse Patient and researcher form a tandem in scientific research into Usher Syndrome Usher Syndrome patients and researchers of Radboudumc set the tandem in motion again for scientific research into a treatment for Usher Syndrome, this time concerning type 2C. After the successful USH2A Minigenes
Also researches and studies are conducted in the world that do not specifically offer a solution for people suffering from Usher Syndrome, but that can be of significance in the future. Solutions, therapies and medical aids for other disorders can in a later stage be applied to people suffering from
So far, one Usher gene is known with respect to Usher Syndrome type 3, being USH3A. The USH3A gene does the coding for the ‘clarin-1’ protein. The USH3A gene is sometimes also called CLRN1, an abbreviation of clarin-1. Usher Syndrome type 3A mainly occurs with people with a Finnish background
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