research
The future is looking extremely positive with the development of research into therapies to halt the progression of Retinitis Pigmentosa. An army of scientists worldwide is working on several different techniques to either halt the progression of RP or to ultimately change the course of the genetic mutations that have created Usher syndrome. The recent progress in gene therapies and stem cell therapies can be followed via the articles below. Progress in research is further aided by developments in genetic testing, enabling conditions such as Usher syndrome to be identified. By linking with the USH TRUST (FORMERLY KNOWN AS THE INTERNATIONAL USHER SYNDROME REGISTRY), you will be updated on all current research advances and when clinical trials are taking place around the world.
Check out the video below, which gives an overview of research into Usher syndrome which is underway in the UK and beyond....
Check out the video below, which gives an overview of research into Usher syndrome which is underway in the UK and beyond....
Gene Editing - Inserting, replacing or removing DNA from a genome using artificial nucleases (molecular scissors used to cut the DNA where inserting or replacing strands of DNA are necessary). Its impact on conditions like Usher syndrome may mean that the defective gene would be able to be replaced with a normally functioning gene.
Gene Therapy - The delivery of new gene/s into a patients cells for therapeutic purposes to treat disease. Gene therapy can be split into two categories, somatic cell gene therapy and germline gene therapy.
Gene Therapy - The delivery of new gene/s into a patients cells for therapeutic purposes to treat disease. Gene therapy can be split into two categories, somatic cell gene therapy and germline gene therapy.
- Somatic Cell Gene Therapy - The most common form of gene therapy, this process involves integrating the DNA from a healthy gene into any diseased cell (other than the reproduction cells; gamete, germ cells and gametocytes) and is used to treat disease. The nature of this type of gene therapy means that the modifications affect the individual patient only and will not be inherited by offspring.
- Germline Gene Therapy - This involves the modification of the germ cells (sperm or eggs) by introducing the functional genes into their genome (the complete set of genetic material). Modifying the germ cell instead of the somatic cell will cause all the organism's cells to contain the modified gene and will therefore be able to be passed on to later generations. This method however does bring a greater risk as it is hard to predict what other impacts this modification will have, as a result it has been prohibited in a number of countries.
register
An early diagnosis is critical for children with Usher syndrome because it allows families to plan their future and take control of their child’s care, and also enables researchers to learn more about the natural progression of the condition to accelerate their work to find treatments. Families with an early diagnosis can establish appropriate support networks before the onset of vision loss. Not all children that are born with a profound hearing loss of an unknown cause are referred for genetic testing. This means some children with Usher syndrome may not be diagnosed until vision loss is noticeable. Genetic testing is available - for more information see Genetics of Usher Syndrome.
Identifying patients early has a significant impact in the world of research. The more patients that are known to researchers, the more knowledge doctors have of the natural history of the disease which will contribute to treatment and cure options. If you have a diagnosis please consider joining the USH TRUST (formerly known as the International Usher syndrome registry) to support finding a cure. This database will give you access to all the clinical trials that are scheduled to take place around the world. The Usher Coalition in the USA also runs a worldwide Family Network (known as the 'Blue Book' that gives you an opportunity to share your experiences with families around the world.
Identifying patients early has a significant impact in the world of research. The more patients that are known to researchers, the more knowledge doctors have of the natural history of the disease which will contribute to treatment and cure options. If you have a diagnosis please consider joining the USH TRUST (formerly known as the International Usher syndrome registry) to support finding a cure. This database will give you access to all the clinical trials that are scheduled to take place around the world. The Usher Coalition in the USA also runs a worldwide Family Network (known as the 'Blue Book' that gives you an opportunity to share your experiences with families around the world.
USH Trust (formerly known as the International Usher Syndrome Registry)
Usher syndrome is the most common cause of combined deafness and blindness. There is currently no cure. We need your help to change this. The USH TRUST enables the research community to identify and maintain contact with everyone with Usher syndrome around the world.
USH Blue Book (formerly known as the Family Network)
The goal of the USH BLUE BOOK is to connect Usher families. When a new family joins, their contact information is passed onto others in the network. The diagnosis of Usher syndrome can be very traumatic to a family. It affects not only the individual afflicted, but all members of the family. Often what they seek most is simply someone with similar experiences, someone with whom they can discuss doctors, tests, treatments, education, and expectations.