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Aurora magazine

The blog about the prenatal genetic of latest generation

Are Swiss men the least fertile in Europe? Why?

According to the World Health Organization, Switzerland is the least fertile country in Europe. The average for young European men is around 41-67 million spermatozoa per ml. Instead, more than half of Swiss young people fall far below this average. Other less fertile countries are Denmark, Norway and Germany.

How this phenomenon is possible and what consequences it can have for the health of the individual. By averaging across the entire Swiss male population, every man should have around 47 million spermatozoa per ml of semen. WHO data show a very different reality: only 38% of Swiss young people have a correct sperm concentration. 71% is instead "subfertile", meaning that it has less than 15 million spermatozoa per ml of seed. This means that Swiss men tend to be less fertile and take longer to conceive. In general, we are seeing a steady decrease in sperm concentration.

There are many theories as to what the causes could be: the substances present in the plastic; lack of physical activity; jeans too tight. Unfortunately, there is no safe answer, at least at the moment. In the specific case, the researchers tested the seed of 2,500 men between 18 and 22 years, as part of the exams for the military service. They also submitted a questionnaire about lifestyle, diet and education. All study participants were conceived and born in the country.

The low concentration of spermatozoa influences the ability to conceive, obviously. In addition, it increases the risk of testicular cancer and genital malformations. This could be related to the increase in cases of this type of cancer over the past 35 years. In Switzerland there are about 10 cases per 100,000 men, one of the highest rates in Europe.


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Can gene therapy fight sickle cell anemia?

A Rice University bioengineering team is working on a new gene therapy against sickle cell anemia. If the findings were confirmed, we would be able to correct the mutation causing the disease already in the womb. One of the available therapies against sickle cell anemia is stem cell transplantation. Unfortunately, only 15% of patients find a compatible donor between relatives and volunteers.

The authors of the study have developed an alternative more compatible with the organism and available to all. The therapy uses CRISPR-Cas9 to repair the patients' hematopoietic stem cells. What is therapy? Doctors isolate the patient's bone marrow cells and correct them with genetic editing. At this point they use chemotherapy to eliminate part of the sick stem cells, so as to make room for healthy ones.

Then they implant the edited cells into the patient and wait for them to reproduce. Repairing stem cells instead of replacing them eliminates the risk of rejection, cutting most of the problems associated with transplantation. At first, the team tested guinea pig therapy using stem cells from 5 sick patients.

The edited cells multiplied and continued to function for about 4 months. In a second phase, the researchers used a more recent and precise version of the CRISPR-Cas9. This change has led to less unexpected changes. Genetic editing has corrected 40% of the cells. 50% of the stem cells cut the wrong DNA without correcting it. 10% continued to produce the sick version of hemoglobin.


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A genetic test predicts how breast cancer will respond to therapies

Researchers from the Institute of Cancer Research in London have developed a new genetic test for women with breast cancer. The test predicts how patients will respond to therapy even before it starts. To do this, a few drops of blood are enough.

The test looks for genetic variants that make the tumor resistant to certain drugs. In this way, doctors know in advance if it is worth going ahead with a certain type of treatment. Furthermore, it is useful in cases of chronic cancer. In some cases, in fact, cancer cells become resistant to certain drugs and therefore we must change strategy. In the future, such tests could help identify almost half of women at high risk of recurrence. Doctors will see in advance if the cancer has become resistant to drugs and the therapy must be changed.

To develop the test, the researchers examined the blood samples from 310 women. All women suffered from the most common form of breast cancer, all in an advanced stage. The patients were testing two drug therapies designed for tumors of this type. About 42% of them (131 women) showed genetic variants related to the risk of relapse. On average, women with these variants had a tumor return 3.9 months after the end of therapy.


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Too many Omega 6s in pregnancy hurt

In our society, we consume large quantities of omega 6 fats, in particular linoleic acid. The latter is present in potato chips and vegetable oils. However, a study shows that excess of this substance can become dangerous in pregnancy. It appears to be associated with a higher rate of heart disease.

The research was published in The Journal of Physiology. Doctors recommend consuming linoleic acid about three times a week. The researchers analyzed the effects of the substance during pregnancy by subjecting guinea pigs to a diet rich in linoleic acid for 10 weeks. Then they made them mate and continued to analyze the effects of the diet on pregnancy.

The guinea pigs that followed the diet before and during gestation showed three changes:

  • increased inflammatory proteins in the liver;
  • higher levels of a protein that causes contractions of the uterus;
  • reduction of a hormone that regulates the growth and development of the fetus.

All these changes are linked to increased complications and problems in fetal development. However, it is necessary to verify if the effects of linoleic acid are the same in rats and human beings.

If this were the case, pregnant women should reduce their consumption of omega 6 during pregnancy. Speaking of rats, the only variant with respect to the control group were the quantities of linoleic acid. Fat and sugar levels were normal, so you can't attribute any of these effects to them. When we talk about human beings, we must keep in mind that foods rich in omega 6 tend to be also fat and salty. This entails an additional health risk.


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