Aurora magazine

Prenatal and genetic tests raise some concerns at times. Some people believe they can be used to get bespoke children, with bold features. In reality, screening tests only serve to verify the health status of embryos and fetuses. Epigenetics proper is only science fiction, at least at the moment.

A study conducted by Dr. Shai Carmi of the University of Jerusalem confirms this. The study highlights how many traits depend on variants on multiple genes, not on a single mutation. This complicates prenatal screening, at least for certain diseases - and actually makes it impossible to program a child to taste. Traits such as intelligence or height depend on a large number of factors, some environmental and other genetic. Based on the knowledge we have today, trying to select an embryo based on future intelligence would be a titanic undertaking.

To test their point, the researchers used a computer-based simulation based on the genome of real people. Starting from these, they created 10 hypothetical embryos for each pair. The process imitated what happens during a true IVF cycle, with a limited number of embryos. After that, the researchers assigned a score to each embryo, based on the supposed genetic advantages.

The selected embryos should have been the parents' genetic creams. Still, the advantage over the others turned out to be quite small. The hypothetical adults would have had an IQ 3 points above the average of the unselected embryos. The same applies to the height. All at the price of genetic tests that are still not precise, at least when it comes to traits of the person and not genetic diseases.

Source: cellpress.com

Researchers at the University of Cardiff and the University of Bristol are developing a genetic test for myopia. The test will help identify the children most at risk, around one in three in the UK alone. In this way it will be easier to intervene immediately to slow down the development of the condition.

Myopia is on the rise worldwide. The condition depends on excessive elongation of the eyeball, which prevents light from reaching the retina properly. The eye is therefore struggling to focus on distant objects, which appear increasingly blurred as myopia grows worse. Diagnosing myopia is simple: a visit to the ophthalmologist is sufficient.

Glasses and contact lenses help to stop the problem, but they do nothing for other possible disorders. In fact, myopia increases the risk of glaucoma, cataract, degenerative changes in the retina. Furthermore, current treatments can only slow down the worsening of vision, without ever stopping it altogether.

The researchers analyzed the genetic differences of more than 700,000 people, with and without myopia. This allowed them to identify diagnostic criteria in order to diagnose the disease before it occurs. Thanks to the test, researchers are able to tell which subjects are most at risk of getting sick.

The researchers hope to be able to use the test to identify the children most at risk, focusing on those who could lose more diopters as adults. In this way it will be possible to intervene with ad hoc treatments, which will stop the problem.

Source: cardiff.ac.uk

A team from the University of Cardiff has discovered a potential treatment for distal Nonaka myopathy. The genetic disease causes progressive loss of strength in the legs and arms, forcing you to spend your life in a wheelchair.

The cause lies in a mutation of the GNE gene and for the moment there are no approved treatments. The anomaly of the GNE gene causes the lack of a fundamental enzyme for the production of a sugar. Without this sugar, the muscles cannot develop. As a result, those suffering from the disease take on sugars to replace the missing one. However, this can lead to a progressive increase in weight, not to mention liver problems. Also for this reason, Cardiff researchers are studying possible therapies.

The authors of the study found a way to bypass the non-functioning enzyme by restoring sugar production. In this way the muscles can develop in the correct way and disease slows down its progression. Treatment development is still in the early stages: researchers are conducting the first in vitro tests, on cells of patients suffering from the disease.

The next step will be to improve the chemical properties of the drug used, in order to improve its effectiveness and make it easier to take. Then we will move on to animal model trials and finally to those on humans. The road is therefore still long, though promising.

Source: pubs.acs.org/journal/jmcmar

Genetic tests to predict cancer risk and to develop ad hoc treatments are increasing. According to one study, however, the future lies in the double screening of DNA and RNA. This would make it possible to obtain more reliable and precise data, which can also be used to assess the presence or absence of a genetic predisposition.

The risk of getting sick depends on a large number of factors related to genetics, environment and lifestyle. The lifestyle is surely the one on which it is easier to intervene, but also the genetics has a great weight. Certain variants predispose the body to the appearance of tumors. By identifying them, it is easier to intervene on the other factors and identify a possible tumor in the very early stages.

Standard tests focus on mutations in DNA. However, a new approach is taking off, which also takes into account mutations at the RNA level. This allows to multiply the eventual tests of a genetic predisposition, reducing the cases of false negatives.

The first data on the subject were presented at the National Society of Genetic Counselors Annual Conference in Salt Lake City. The researchers tested the methodology on 2,500 patients. The test identified about 6.9% more mutations, 19% for specific genes such as BRCAs. This means more precise results, although more difficult to read.

Source: mddionline.com