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.
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 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.
- 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 including Australia.
- Ear Bionics - The most common form of ear bionics is the cochlea implant, this implant consists of electrodes which are implanted into the cochlea and help to stimulate the hearing nerve
- Eye Bionics - Research into eye bionics like that being carried out by the team from Bionic Vision Australia hope to give patients vision through a system consisting of a camera attached to a pair of glasses. The camera transmits high-frequency radio signals to a microchip implanted in the eye. Electrodes on the implanted chip convert these signals into electrical impulses to stimulate cells in the retina that connect to the optic nerve. These impulses are then passed down along the optic nerve to the vision processing centres of the brain, where they are interpreted as an image. (http://bionicvision.org.au/eye)
Recent Research News
- September 1st, 2016: Dr. David Gamm's Team Awarded NIH Grant to Reverse Blindness
- August 30th, 2016: Catalyst: Gene Editing Made Simple CRISPR is a powerful gene-editing technique that is transforming the field of genetics. Faster, easier and cheaper than previous gene modification methods, the dream of treating cancer or curing hereditary gene diseases is one step closure. However, with the power to change DNA come ethical implications. CRISPR gives us the ability to alter the evolution of an entire species. Scientists are excited but are aware that they need to be careful how they use this revolutionary gene editing tool.
- July 16, 2016: Researchers Successfully Replaces Unwanted Genes That Caused Blindness
- July 15, 2016: Early Trial Results Support the Safety of Cell-Based Retinitis Pigmentosa Treatment
- Janauary 30, 2016: Gene Editing: The Next Frontier in Ophthalmology
- September 4, 2015: Study to find the genetic cause of USH in Chinese patients
Massachusetts researchers have made a significant advancement toward a gene therapy treatment that would reverse deafness.
"The present position paper outlines recent progress in gene therapy and cell therapy for this group of disorders [retinal dystrophies], and presents a set of recommendations for addressing the challenges remaining for the coming decade..."