Aurora magazine

The Estonian government has launched a genetic testing program for everyone to offer increasingly personalized therapies. The aim is to improve the prevention of the most common diseases, giving lifestyle advice and identifying possible genetic predispositions. The initiative is the first step towards personalized medicine programs available to everyone, even for the poorer classes.

The EPERMED project is funded with European Union funds. Researchers have developed new techniques for creating individual genetic maps, so as to calculate the risk of developing the most common pathologies. According to the authors, the approach can be scaled nationally in a sustainable way. In this way people at risk of diabetes or cancer could act to reduce the risk of getting sick. For the moment, the Estonian government is offering free genetic tests to only 150,000 people, about 10% of the population.

The researchers will insert the data in the Estonian Biobank, analyzing them for over 700,000 mutations. Once the analyzes are completed, they will give the results to the participants and insert them in the providers of the authorized structures. By the end of 2019, the analysis of the first 60,000 people should be completed. The genetic tests used for the project are a low-cost type that uses SNP-arrays. The microchips identify the most common variations, so as to give a map of the risk factors present in the DNA.

They are cheaper and faster than total DNA sequencing, therefore compatible with future mass sequencing. The Estonian database will be used to identify those most at risk, so as to advise them on possible changes in lifestyle. In addition, doctors will be able to use it to prescribe ad hoc therapies and avoid less effective drugs in advance.

Source: ec.europa.eu

A healthy pregnancy lasts 37 weeks. As everyone knows, too early a term can be dangerous for the child. Even a delayed birth can cause serious problems, though. According to a study by the Queen Mary University of London, every week of extra gestation increases the risk of the child being born dead.

The researchers analyzed data from more than 15 million gestations. Among these, there were some that had ended only at the 41st week of gestation, with almost a month late. The authors compared the outcomes of these parts with those completed and those concluded at 40 weeks.

The comparisons revealed a slight but significant increase in the risk of serious complications. The risk is present but not such as to cause too much alarm to future mothers. Out of 1,449 gestations reached the 41st week, there is one more that ends tragically. This figure is based on comparing pregnancies up to 40 weeks. Moreover, black women are about 2 times more at risk than Caucasian women. In the United Kingdom, there are about 3,000 cases of babies born dead each year. About a third of these were children considered healthy, born from the 37th week of gestation onwards.

A prolonged pregnancy is one of the risk factors, which is why after the 41st week piloted birth is recommended. The researchers also analyzed data from 13 studies conducted in the United Kingdom, Denmark and Norway. From what has emerged, the most significant difference is triggered after the 41st week of gestation. From the 42nd onwards, the chances of the child being born dead increase by 82%.

Source: qmul.ac.uk

A Harvard University team analyzed the fertility of a particular class of men: young, in good physical shape, but with a diet rich in junk food. Despite the weight under control, the fertility of these young men was lower compared to participants with a healthy diet.

Many of the study participants were in the peak reproductive age, ie between 20 and 25 years. Nevertheless, they had less than 39 million spermatozoa per ejaculation. Under this sperm count, it becomes difficult to conceive naturally and the situation can only get worse with age.

The fault of all this? Red meat, ready-made foods, sweetened drinks and carbohydrates. The researchers analyzed the sperm of 3,000 men around 19 years of age. Furthermore, they subjected the participants to some dietary surveys. In this way they were able to divide them into four groups, depending on the type of feeding. Those who ate little meat, lots of fish and lots of vegetables were the ones with the healthiest and sperm-rich sperm.

We tend to blame obesity and physical inactivity for fertility problems. Both factors influence negative sperm counts, in fact. However, the bad diet seems to have a special role in all this. Junk food increases the risk of diabetes, obesity and cancer. In addition to this, the average number of spermatozoa collapses by itself. This could be one of the causes of the male fertility breakdown we are experiencing.

The most worrying finding of this study concerns long-term outcomes. Spermatozoa live on average 3 months: changing feeding, there should be a marked improvement in fertility. However, according to the researchers, a poor diet in youth could permanently damage fertility.

Source: independent.co.uk

An article in the New Scientist returns to talk about Crispr and genetic editing. According to journalist Michael Le Page, five Russian couples would like to use the technique to correct their embryos. All couples are composed of deaf people or healthy carriers of the genes that cause deafness. Using Crispr, they could have hearing children. Maybe.

At the head of the project is the Russian biologist Denis Rebrikov, who announces that he wants to ask permission from the Russian authorities. The announcement, however, does discuss because of all the possible ethical repercussions and for the alleged precedents. A few months ago the news of the birth of two Chinese twins that, according to scientists, would be the first GMO human beings ever born, was released.

Crispr technology could cure serious genetic disorders before they occur. However, the long-term effects are unclear: what would happen if the technique created new heritable mutations? Furthermore, there are a number of concerns related to the risk of eugenic drifts. Neither seems to have discouraged Dr. Rebrikov, though. All ten possible study participants have a mutated version of the GJB2 gene, which causes deafness.

The biologist wants to correct the gene in the germ lines, so as to have only embryos without defects and healthy. Technically it's feasible, but the scientific community believes it's too early for such a step.

Source: wired.it