Scientists doing research into the unravelling and treatment of Usher Syndrome are studying the underlying effect of the mutation and this is not dependent on the Usher Syndrome type. In this way, a strategy for a certain mutation can also be the solution for a similar mutation of another Usher gene type. In their studies the researchers and geneticists use the gene name, whereas physicians use the protein name in their clinical studies. In public databases the gene name is always used.
At this moment, 10 different Usher Syndrome genes are known, all of which are involved in the production of an Usher protein. The various genes are divided into three clinical types, being USH 1, USH 2 and USH 3. The specific genes are indicated by letters (A, B, C, etc.). Apart from the state of the art for each strategy and methodology, we also have an overview of the research statuses for each Usher gene.
NATURAL HISTORY STUDIES
The detailed mapping out of the natural history of the functioning of eyesight and hearing in the different types of Usher Syndrome is essential in order to be able to determine the effectiveness of future therapy. Only after studies have demonstrated the effectiveness and safety of certain therapy types, these will be made available to patients on a large scale after a long process of market implementation.
Gene therapy is a treatment method for hereditary disorders in which healthy copies of genes in which faults (= mutations) were found with patients are replaced or added to cells. The replacement genes produce again the proteins that as a result of the mutations were no longer produced. This is meant to stop the deterioration of the functioning of the retina or cochlea.
In RNA therapy the fault as a result of mutations in the DNA at RNA level is repaired by placing a sort of ‘genetic patch’ of antisense oligonucleotides over the fault. As a result of this, the RNA string can be read and translated well, like a zipper that is no longer stuck, and a functional protein can eventually be produced.
Various studies are being conducted into medicines for treating Usher Syndrome. Existing medicines that are already applied to other diseases may possibly also slow down the deterioration process of ears and eyes in connection with Usher Syndrome.
STEM CELL THERAPY
Stem cells are unripe cells that can divide but also specialise into specific cells for other tissues. Stem cells can develop into virtually every cell type in the body, which makes them versatile.
Rod-cone therapy is independent of the gene and focused on treating the rods in the eye while keeping the cones intact. The rods of the retina die first (see light and dark).
INNOVATIONS AND (MEDICAL) AIDS
Also investigations and studies are conducted in the world that do not specifically offer a solution for people suffering from Usher Syndrome, but that may be of significance for them in the future. Solutions, therapies and medical aids for other disorders can in a later stage be applied to people suffering from Usher Syndrome as well.
Usher Syndrome has major psycho-social consequences. The progression of the deterioration of two senses forms an ultimate challenge for the adaptability of people. Professor Claes Möller from Sweden has done a lot of research into the life strategies of people suffering from Usher Syndrome, the psycho-social consequences and their well-being.
Most scientific studies and trials are published on the following Internet sites:
The proteins control all processes in our bodies. These proteins are built using codes that have been captured in the DNA. Due to a writing error in the DNA a protein can be produced incorrectly or not at all. Fixing this DNA error changes the production of the protein and so makes the disorder disappear or reduces the symptoms. This is the idea behind the genetic therapies that are now under development throughout the world.