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One of the most cutting-edge sciences on the planet today is genetics and all its many forms. There are constantly new revelations being published about genetic factors that determine any of a myriad of biological and even behavioral things about people. There are all sorts of research into hereditary diseases as well, and these studies all rely on genetics due to the nature of heritable diseases. Two of the best and most recent examples this month alone are two studies conducted independently of one another targeting Leber Hereditary Optic Neuropathy (LHON) and Huntington’s Disease.
Daniel Heredia Doval, a Spanish, postdoctoral researcher from the Autonomous University of Madrid, said in a study published in 2012 that there is a solid and well established, genetic basis for all sorts of diseases, phenotypic traits and likely health complications. “Cancer and Parkinson’s, height and obesity, longevity, etc. All this has a strong genetic base that is reduced to one or a few genes. But, in addition to physical characteristics, a large number of genes have also been described that entail an innate predisposition to develop behaviors as complex as alcoholism, sexual preferences, aggression, religious feeling and even driving skills.
“The reach of genes does not seem to have a limit,” Doval emphasizes, “and although the social and natural environment is recognized as an important trigger, it is genetics that ultimately establishes the limits of what we are and what we can be.” Genes are ultimately the smallest DNA sequences that can be expressed in a linear, causal chain that produces protein or types of RNA. From this basic knowledge of genes and subsequent research, the scientific community has come to ascribe several postulates to the understanding of cells — basically points of consensus fundamental enough for geneticists to view them as established fact.
Timothy Bancroft-Hinchey, a science writer for Pravda Report, summarizes these tenets of genetics. “1) DNA constitutes the ultimate material basis of all biological information; 2) genes are defined and discrete units of genetic information; 3) genetics underlies all aspects of organic form and function; 4) genetic information is expressed linearly through the Central Dogma of Molecular Biology; 5) changes in genes (mutations) occur randomly and individually; 6) mutations and natural selection are the engines of evolution; 7) only characters with a genetic basis are certainly hereditary, while 8) characteristics acquired during the life of the organism in response to the environment do not persist beyond the stimulus and consequently are not inheritable.”
It should come as no surprise, therefore, that during the current surge in genetic research and progress, scientists are targeting hereditary diseases more effectively than ever. The results of a new trial suggest that Huntington’s may be far more treatable in the near future. Louise Vetter, CEO and president of the Huntington’s Disease Society of America, has called the discovery therein “historic.” Nancy Wexler first discovered the Huntington’s mutation in 1993, and she has already said, “I’m ecstatic.”
“Huntington’s is horrible, one of the worst diseases known to mankind, and certain death. … We know it’s a bad gene, making a bad protein, that makes people sick, that kills your brain cells. Anything that could impact that, we knew that that could be a cure.” The new trial they’ve all been praising since the announcement of its success was that of researchers spread out across six research sites in Canada and Europe, all supported by Ionis pharmaceuticals, which is a California-based pharmaceutical company. These researchers engineered the first drug to directly treat Huntington’s at its root, IONIS-HTTRx.
Huntington’s is a disease that correlates with a specific gene that uses RNA to code cells for the production of protein, but the mutation that Wexler initially discovered causes the protein produced to be toxic. That toxic protein then deals damage to the brain and kills nerve cells. IONIS-HTTRx is a new drug that sends a fragment of genetic material to adhere to the RNA, thereby preventing it from building any of the toxic proteins.
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Perhaps the most obvious reason why this is such a big deal is that Huntington’s has long been both incurable and untreatable; however, one of those truths may yet cease to be. “When people get tested, there’s nothing we can give them. Zero,” Wexler explains. “You can’t give them hope, you can’t give them medicine,” which is why she referred to it as one of the worst diseases to afflict mankind. “If this therapy can reverse or prevent it, the minute people get the test, we can immediately give them this drug before they get sick.”
Likewise, GenSight Biologics is also reporting positive signs from 2.5 years of follow-up data after the Phase I/II clinical trial with GS010, which is gene therapy for patients with Leber Hereditary Optic Neuropathy. LHON is another heritable disease that degrades retinal ganglion cells along with their axons. This causes subacute, if not acute, loss of central vision. It’s inherited through mitochondrial DNA from the mother. Ionis trials demonstrate that the visual acuity improvement in patients under two years of onset see the improvement lasting long-term. Though it affects fewer people than Huntington’s Disease and may not be as mortally detrimental, it similarly buttresses the assertion that genetic research is arguably the most cutting-edge science today.