Researchers at the University of Sydney analyzed how people approached genetic testing. It was found that some patients at high risk of heart disease did not understand the impact of the results on their lives. This confirms how important it is to request an informed consultation with a specialist before and after a genetic test.

Genetic tests are used to assess how likely there are that a disease manifests itself. The most popular ones concern tumors, but they can also be applied to cardiac diseases such as hypertrophic cardiomyopathy. The disease causes a thickening of the heart walls, which can lead to a sudden heart attack. First-degree relatives of those suffering are 50% more likely to have the same genetic mutation.

Thanks to genetic tests, today it is possible to identify healthy carriers of hypertrophic cardiomyopathy. These people do not show symptoms of the disease, but they are still at risk. For this reason, the positive result of a genetic test can be overwhelming for most people. Some patients show signs of anxiety related to the appearance of any symptoms. Many stop exercising or question plans to start a family.

The problems in question mainly affect those who do not turn to a specialist to interpret the results. On the contrary, those looking for a consultation before and after the test have far fewer problems. A good geneticist can help them understand how to deal with the positive results of the test. He advises them and tells them how best to deal with the news.

Source: eurekalert.org

A team from the University of Trento has developed a new genetic editing technique. It is called evoCas9 and is even more precise than Crispr / Cas9. According to the authors of the study, this technique will make it possible to correct alterations related to genetic diseases and tumors.

The Cas9 molecule used for Crispr modifies the gene that interests and the one around it. In this way it causes further mutations that are difficult to predict, which could have negative consequences in turn. Instead, the new technique uses an enzyme that can modify only the point that interests it. Thus evoCas9 could be exploited also in non-medical sectors, such as livestock and agriculture.

The name evoCas9 comes from the process behind the development of the molecule, similar to the Darwinian evolution. The Cas9 molecule is born in bacteria and is inaccurate to protect the body against all foreign DNA. The researchers have therefore made it evolve in the yeasts, which are simple but more like human cells. Generation after generation, they have selected the most accurate versions until the desired result is achieved.

Once the extremely accurate Cas9 version was obtained, they experimented with evoCas9 on human cells. Compared to the original Crisp / Cas9, the new version has only four different amino acids and a completely different selection criterion. To develop the original editing technique, US researchers had relied on algorithms. Instead, Italian researchers have evolved their molecule in vivo.

Source: repubblica.it

In individuals with Smith-Lemli-Opitz syndrome, antioxidants help fight loss of vision. The discovery comes from the Jacobs School of Medicine and Biomedical Sciences. Researchers have added antioxidants to the standard therapy of some diseased guinea pigs. According to the first data, the addition would stop the retinal degeneration of the genetic disease.

Smith-Lemli-Opitz syndrome (SLO) is incapable of producing cholesterol. This causes a series of cognitive and physical abnormalities, including the progressive loss of sight. Researchers have found a way to prevent at least this last symptom. In animal models treated with the new approach, they avoided the appearance of retinal degeneration.

To date, SLO therapy provides for the treatment of individual symptoms. In addition to this, doctors are used to prescribe cholesterol supplements. In some cases, this is enough to prevent the disease from moving from the nervous system to the eyes, the heart and other organs. The results vary however from case to case. According to the authors of the study, the variant could be in the degree of oxidation of a specific molecule.

To test their hypothesis, the researchers blocked the oxidation of the molecule in some guinea pigs. In addition to standard therapies, they gave them antioxidants. Mice treated this way showed a marked improvement in retinal degeneration. The result is promising, but before going to humans, other studies will be needed.

Source: medicine.buffalo.edu