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Aurora magazine

The blog about the prenatal genetic of latest generation

107 genes to predict glaucoma blindness

A new genetic test could save hundreds of people from blindness. Researchers from the Berghofer Medical Research Institute and Flinders University have identified 107 genes linked to the risk of glaucoma. Starting with this discovery, they developed a way to identify patients who are most at risk of going blind.

To date, glaucoma is the leading cause of irreversible blindness in the world. To find out the causes, the study authors started from the genome of tens of thousands of people around the world, healthy and sick. Once genes were analyzed, they identified those related to the development of the disease. In this way, they were able to develop a genetic test to measure the risk of getting sick.

The test is still in the experimental phase: researchers are looking for 20,000 volunteers to carry out the research. If all goes well, the test will allow you to measure the risk of getting glaucoma. In addition, it will help to make an estimate of the possible severity of the disease, in order to identify the subjects who are most likely to lose their sight.

Will the test heal those who are already blind? To tell the truth, no: for the moment, there is no resolutive therapy for glaucoma. However, doctors can slow down or stop the progression of the disease, at least in most cases. Often the loss of vision is linked to a late diagnosis, which makes it impossible to intervene in time. The test in question could reduce such cases, giving a diagnosis to 50% of people with glaucoma who do not yet know they are.


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Can gestational diabetes be predicted before pregnancy?

The team of Dr. Eran Segal, of the Weizmann Institute of Science in Israel, has developed an algorithm to predict the risk of gestational diabetes. Before the patient gets pregnant. The test aims to identify women most at risk, so as to help them change their lifestyle to avoid the onset of the problem.

The researchers analyzed data from over 600,000 gestations. They obtained them from the database of the Israeli organization Clalit Health Services, the most important in the country with a health theme. The goal was to find a system to measure the risk of getting sick before pregnancy, a problem far from trivial.

Gestational diabetes occurs in 3-9% of gestations and represents a risk for mother and child. Just like in other types of diabetes, high blood sugar levels put mother and baby health at risk. Despite the similarity with traditional diabetes, however, gestational diabetes is often unrelated to the presence of cases in the family or in previous gestations. All this makes it much more difficult to predict whether a woman will fall ill or not.

Scientists analyzed data from thousands of women using an artificial intelligence system. Later, they used the algorithm to process more than 2,000 evaluation parameters. These included the results of glucose tolerance tests, blood tests, family history. The system revealed that 9 parameters are enough to predict whether a woman will fall ill.

Thanks to the discovery, few questions and tests will be enough to accurately calculate the risk of disease.


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A tampon will save against deafness

A swab may be enough to identify infants who are at risk of becoming deaf. In fact, the team of Dr. Bill Newman has developed a test to diagnose allergy to gentamicin. This antibiotic saves the lives of approximately 90,000 infants per year. In the presence of a particular genetic anomaly, however, it leads to hearing loss. The test in question could avoid the problem.

About one in 500 people have a genetic variant that makes them sensitive to gentamicin. This has been known for 25 years, but traditional genetic tests take days. In an emergency, it is impossible to say whether or not the newborn presents the variant in a short time. Doctors are therefore forced to give the life-saving drug immediately, all without knowing if it will cause hearing loss in the newborn.

The new test detects the genetic variant in 20 minutes. Doctors take cells with a small sample. At this point they analyze them with a machine the size of a PC, designed to look for that specific variant. If successful, doctors can prescribe alternative therapy and save the baby's hearing.

At the moment, the test is still being evaluated. Researchers are testing it in the St Mary's Hospital intensive neonatology area, already achieving excellent results. If it were used in all hospitals in the British health system, it could avoid deafness to more than 180 infants per year.


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Will we produce eggs and sperm in vitro?

Scientists from the University of California, Los Angeles, are studying how to produce eggs and sperm in vitro. They talked about it in an article published in the journal Cell Reports, explaining part of the mechanism. In the future, the process could help those who don't produce gametes and want a child.

The researchers analyzed over 100,000 stem cells as they converted to gametes. In particular, they measured the genes that activated throughout the process. A special algorithm helped them to process the huge amount of information, so as to identify a pattern common to all stem cells. The goal is to reproduce the entire in vitro process and obtain gametes made in the laboratory.

Experiments are still ongoing. For the time being, scientists have started from cells similar to human primordial germ cells. They converted them into transitional pluripotent stem cells, so as to differentiate them into germ cells. Thanks to the patterns identified by the algorithm, they maximized the number of successful differentiations.

In preliminary analyzes, scientists used both embryonic stem cells and induced pluripotent stem cells. The algorithm analyzed the genetic patterns active in both groups of cells at the time of development. According to the data, the differences are minimal, which would make gamete in vitro even easier. The important thing would be to use the right techniques, so as to minimize waste.

If the tests continue to give positive results, it will be possible to produce gametes from epithelial cells in a few years. Before the procedure is applied, however, tests will be needed on the possible genetic consequences for the fetus.


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