An article in Science Daily describes the discovery of a new gene that controls three different diseases. Researchers have used ultrasequencing techniques and have sequenced over 20,000 genes of a patient’s Fanconi anemia genome. By using this method researchers have been successful at identifying ERCC4 gene mutations. The ERCC4 gene is related to diseases such as xeroderma pigmentosum and progeria. Both have sensitivity to sunlight, and patients with those two diseases are more susceptible to skin cancer. Fanconi anemia is a progressive form of anemia, with malformation and a high risk of developing leukemia and tumors in the mouth. The ERCC4 gene can be link to three diseases, xeroderma pigmentosum, progeria and Fanconi anemia.
Researchers found that the ERCC4 gene is involved with two DNA repair mechanisms, maintaining the stability of the genome so that the balance among the two repair systems will ultimately determine the disease the patient will obtain. By the research found on the mutation of the ERCC4 gene and knowing the genetic make up of the three diseases, will allow for new approaches of therapy. For example, a sibling’s compatible embryo through an umbilical cord transplant or gene therapy. These finding also expand our knowledge of the two DNA repair mechanisms, which can help with preventing cancer and maintaining gene stability. The researchers indicate that this research will be import to the future studies of the ERCC4 genes possible pole in breast cancer and ovarian cancer.
Researchers and Doctors have found a way to help restore photo receptors in the eye to help patients who have rapid deteriorating vision. This procedure does not work with those who are already fully blind because some healthy photo receptors in the eye are needed. A virus called RPE65 is injected into the eye. In this virus are multiple key DNA that is needed for sight. When the photo receptors absorb the virus the absorb the important DNA needed for vision. This procedure works best in children because their receptors arent as damaged as an adults would be. All patients have reported better vision after the procedure. On average their vision increases for about 8 weeks but some cases have exceeded that limit.
Short video on gene therapy
News Article CLICK HERE
Researchers at the Universitat Autònoma de Barcelona have found a way to completely cure type 1 diabetes in dogs with a single session of gene therapy. Curing diabetes in mice has been successful for some time now. But, this is the first time that anyone cured Type I Diabetes in a large animal. The next step would be applying this gene therapy to humans. Diabetes contributed to a total of 231,404 deaths in 2007. Over 25 million people in the US have diabetes, which accounts for over 8% of the country’s population.
Gene therapy can be performed safely in the human salivary gland, according to scientists at the National Institute of Dental and Craniofacial Research (NIDCR), part of the National Institutes of Health. This finding comes from the first-ever safety, or Phase I, clinical study of gene therapy in a human salivary gland. Its results, published this week in the Proceedings of the National Academy of Sciences, also show that the transferred gene, Aquaporin-1, has great potential to help head and neck cancer survivors who battle with chronic dry mouth. Aquaporin-1 encodes a protein that naturally forms pore-like water channels in the membranes of cells to help move fluid, such as occurs when salivary gland cells secrete saliva into the mouth.
The scientists gave 11 head and neck cancer survivors a single-dose injection of the Aquaporin-1 gene directly into one of their two parotid salivary glands, the largest of the major salivary glands. The scientists found that five participants had increased levels of saliva secretion, as well as a renewed sense of moisture and lubrication in their mouths, within the study’s first 42 days. This scientific breakthrough shows promise for what work can be done in the near future with gene therapy for cancer patients as well as other conditions.
Researchers from John Hopkins and Northwestern University have recently discovered that the shape of nanoparticles can make a difference in how well they work and have also discovered how to control the shape of these particles. What is also new about this gene therapy technique is that it does not use a virus to carry the DNA into cells. Because there are no viruses being used in this therapy the healthy risks are lowered. By compressing healthy pieces of DNA within protective polymer coatings Hai-Quan Mao was able to develop a non viral nanoparticle that is designed to deliver the genetic material once in target cells. Mao was able to fix these particles into different shapes such as rods worms and spheres, which mimic the shape of viral particles.
By using computer simulations they were able to get an understanding of what was responsible for the shape change of these particles. With knowing the mechanisms behind the shape change they could predict how to choose nanoparticle components in order to get the desired shape. To create these shapes used in research researchers packed DNA with polymers and exposed them to different dilutions of an organic solvent. The DNA aversion along with the researchers’ polymer makes the nanoparticles become the desired shape that has a shield in order to protect it. By using the same particle of three shapes to test on animals, it showed that the worm shaped particles resulted in 1,600 times more gene expression in the liver cells than did the rod and sphere.
(DNA molecules packaged into nanoparticles using a polymer)
These nanoparticles could lead to a safer and more effective delivery for gene therapy, targeting cancer and other genetic diseases, and anything else that can be treated with gene medicine. By producing nanoparticles in the shape they excel most in then it would lead to a much more efficient way to deliver gene therapy. From looking at the differences the worm shaped particles made it shows that having the optimal shape can really make a difference. It is amazing to see how much of a difference a shape can make in these carriers when it comes to treating diseases.
The brain communicates through different series of elaborate electrical pulses. Different behaviors require a different electrical pathway that are unique to that behavior, and they are very specific. However, if a group of neurons gets out of control, it can throw the brain’s whole electrical system out of control and cause epileptic seizures. Researchers at University College London, have developed a treatment for this by using what they’re calling “calming genes”.
By injecting a virus into brain cells, which goes through reverse transcriptase and codes to add specific DNA segments, the brain cells’ natural levels of inhibition, & calms them down, so that they don’t become over active. One of the researchers, Dr Robert Wyke, told the BBC: “It’s the first time a gene therapy has been used to completely stop these seizures.” Much more testing is needed before these drugs can be tested on humans, but the first candidates would be those who need brain surgery. This is becuase if the drug didn’t work or had adverse effects, that region of the brain could be removed.
Being that epilepsy hasn’t had any new drugs come along to help it in almost 30 years, this seems very promising. This “drug” is a form of gene therapy that will dramatically cut down on the side effects that current medications have. This may also be a broader approach to help more of the epileptic population, because only about 30% respond to current treatments.
Researchers discover a gene that is selectively embedded into the pancreatic cancer cells that kills the cells ultimately shrinking the tumor and inhibiting metastasis to other parts of the body. The embedded gene is so selective to attack the cancer cells only that it was found to have little to no toxic effects to the body. The gene VISA, short for versatile expression vector contains a promoter and two components that boost its gene expression in the targeted tissue. The payload is the actual gene that is used to kill the cancer cells and all this is bundled into a liposome and is injected into the patient intravenously where it finds it’s target. Research shows that there are about 37,000 cases of pancreatic cancer are diagnosed each year. Because of the high incidences of diagnosed cases and the severe fatality rate of this cancer, the research team is pressing for a Phase 1 clinical trial. The requirements for such a trial is estimated to take one to two years before the FDA review and approval is completed. Fewer than 4 percent of the diagnosed cases of this cancer survive 5 years, most die within months because the aggressiveness of the cancer often causes metastasis to other organs of the body.
The test therapy in mice worked with two aggressive strains of cancer in two different types of mice. Inserted into the VISA system was a mutant version of a gene named Bik, which contains a gene that expresses a protein that naturally forces the cancer cells to kill themselves. Through numerous studies, the team developed an even more lethal mutant and named this BikDD. In the study, the mice who were not treated died within 40 days of injection with the cancer. Those treated with Bik died within 90 days and those mice treated with the VISA-BikDD had a survival rate of about half the mice living up to 14 months with no signs of re-occurrence.the mice that were injected with the more aggressive strain developed tumors in the liver, spleen, kidneys, bladder, lungs, bones and intestines. The mice treated with Bik showed some tumors in other organs while the BikDD treated mice showed no detectable metastasis.
In recent news from Science daily gene therapy has come out with a new type of discovery in mice. A new gene has been found which could reverse hearing loss. Hearing loss is one of the most common human sensory deficits. This mainly results from damage from the hair cells in the inner part of the ear. About half have been recognized as genetic defects. But with the help of a gene coding protein called VGLUT3, (vesicular glutamate transporter-3), there has been enabling of hearing.
This was tested in the mouse model and the cause by the genetic defect in the mouse model of congenital deafness. The different treatments put out for patients with hearing loss can be resulted into simply enhancing sounds but not fully restore the normal hearing levels. Studies have been done using mice with the deafness in the protein VGLUT3. This protein is important in order to send signals to ensure hearing is enabled. This protein was injected and all the mice had hearing enable after two weeks.
This therapy was ensured without any side effects, and proved to be successful. The therapy also corrected any other damages in the mice’s ears. This has been performed on mice and will not eventually be introduced into humans. With all the best research and constant experimenting there can be finally a way to inject this protein into humans who suffer from the deafness.
This article detailed current research about how, although low bone density and osteoporosis is quite prevalent in the public eye, that excessive bone density and subsequent diseases also present a significant medical challenge. The article reported that such diseases of excessive bone density, such as malignant infantile osteopetrosis, or MIOP, are only currently treated with a risky transplant procedure, but research has shown that gene therapy might provide a safe and effective alternative. This therapy would allow experts to extract stem cells from the patients themselves, eliminating any external donor, and have the non-functioning gene replaced with a working copy, and then reinserted into the patient. Researchers note that the method is not risk-free, and that much work is still required before the technique is ready for practical application.
The article and the research it entails were intriguing in that they display great promise in aiding children suffering from such diseases as malignant infantile osteopetrosis (MIOP). I enjoyed the fact that experts discuss the possibility that once such gene therapy, which does not require external stem cell donors (a fact that I thought would limit the critics of such therapy), is proven successful at treating MIOP, there are several other similarly related ostepetrosis diseases which could also be treated with such therapy. I thought this was interesting due to the fact that much controversy surrounds stem cell research as violating certain natural rights by extracting external stem cells, however in this case, no external stem cell donors would be required. Though this is quite notably early in the development and implementation of such research, I look forward to the results of studies and their practical implementation into alleviating and treating such diseases in the near future.
This article details the findings of the Encode consortium, made up of 442 researchers working in 32 institutes internationally, who have dedicated themselves to researching a, “representative 1% of our genome.” Though it was commonly believed that only 2% of DNA codes for conventional genes and the remaining 98% of the DNA was relatively unimportant, ENCODE research has shown that this “unimportant” section of the DNA is instead made up of genetic switches which instruct the cells in the body which genes must be utilized, or switched “on” or “off”, to produce a muscle, skin, or nerve cell. This discovery could have revolutionary implications on the very foundation of current understanding of such diseases as obesity, diabetes, and cancer. With the development of gene-switch medicine, though many years off in the future, medical potential may be extend past the realm of simply just curing iseases, but also isolating the differences between normal athletes and elite athletes, such as Usain Bolt, who’s only difference may lie in unique patterns of gene switching. Though practical application is notably many years in the future, image the possibilities within the medical field with such information.
As an athlete, I think that it is remarkable that, speaking plainly, the only difference between world-class elite athletes and regular athletes could perhaps be a few differences in patterns of gene switching. That medication could close this gap, not only in athletics, but in diseases where these gene-switches could prove invaluable, is extremely exciting and could change the face and orientation of research in gene therapy in the near future. If such RNA-derived gene-switching medication proves applicable, the future of the pharmaceutical field, my prospective professional field, may be altered forever. The sheer potential that such research contains, could shift international medical perspectives and goals in the future, though further study is of course needed.