Aurora magazine

A team of Estonian scientists has announced that they have found a way to make genetic tests more precise. The new technology makes it possible to analyze the number of clinical biomarkers at the molecular level. This should increase the accuracy of the tests, making them even cheaper. If the TAC-seq method proved to be reliable, it could be used both for the diagnosis of genetic diseases and in fertility clinics.

The method measures the number of DNA and RNA molecules used as biomarkers and present in the samples. In this way it gives a more accurate picture of the patient's health status. It indicates the presence of illness, but also the possible reactions to certain drugs. Among the possible applications, there is the identification of the best period to implant an embryo.

Traditional genetic tests amplify DNA, otherwise there is not enough material for sequencing. Unfortunately it is not known how many copies of the original molecule are, so the results are necessarily less accurate. The new method, on the other hand, identifies and removes all copies of the original molecule. In this way the results are much clearer and reflect the real conditions of the patient.

For the moment there are three possible applications for the method.

• Endometrial receptivity test. It could help to determine the levels of specific RNA molecules, so as to identify the best time to implant an embryo.
• Non-invasive prenatal screening. In the future, it could improve the fetal DNA tests available today.
• Profiling of microRNA molecules. These molecules are biomarkers of different diseases and the method would save patients many biopsies.

Source: eurekalert.org

A study by the San Raffaele Hospital has discovered a connection between prediabetes and male infertility. The researchers looked at 744 men with fertility problems. 15.4% of them had high blood glucose levels, enough to be included in the diagnosis of prediabetes. According to the study, the two things could be connected.

Prediabetes is a condition in which blood glucose levels are higher than normal, but not enough to talk about diabetes. These indicate however that there is a problem: without a change in lifestyle, there is a risk of developing diabetes itself. Physical activity and a moderate diet can help to this end. According to doctors, it is also useful to lose about 5% of body weight. What is the link with fertility, however?

The study does not explain the causal link between prediabetes and male infertility. It only shows that there is an association between the two: men with prediabetes have hormonal and metabolic problems, damaged spermatozoa. It is thought that the blame could be the oxidative stress typical of prediabetes, which could affect testicular metabolism.

The study highlights the importance of a factor often overlooked in the diagnosis of infertility: glucose metabolism. Yet this could be the cause of at least some cases of unexplained infertility. Prediabetes is in fact a condition that often remains without a diagnosis, at least until it turns into true diabetes.

Source: everydayhealth.com

A new algorithm could give a big help in the fight against vascular malformations. The news comes from the VI National Congress of the Italian Society for the Study of Vascular Anomalies (SISAV). Dr. Matteo Bertelli presented the work done by him and his team, which could improve the sight of hundreds of people.

Bertelli led a team of biologists and computer scientists, together to decode the way these diseases develop. In fact, to date, the major problem of vascular malformations are relapses. Often the pathology progresses unexpectedly, even after surgery. So the patient is forced to live in uncertainty and often has to return to the operating room, perhaps after less than a year.

The algorithm developed by the Betelli team analyzes the data collected with the sequencing of the tissues. In particular, it compares the DNA of the diseased tissues with that of the blood. In this way it identifies the genetic mutations related to the disease and manages to identify a possible worsening in progress. Furthermore, it also helps to understand on which areas to act and how.

The next step is to integrate the algorithm and tissue analysis done with mass spectrometry. The union of the two analyzes highlights the areas on which the surgeon must act. All this while the operation is still under way, avoiding that it goes too far beyond what is necessary. Then, genetic analysis allows you to choose the best drugs for each individual case.

Source: corriere.it

A world-wide study on neonatal screening for rare diseases is about to start. Among the diseases treated there will be fragile X syndrome, Angelman's syndrome, Prader-Willi syndrome. The pilot study will include the screening of 75,000 newborns to determine if it is possible to transform the procedure into a widespread standard. Leading the study will be Professor David Godler, of the Murdoch Children's Research Institute in Melbourne.

The aim of the study is to validate neonatal screening for some rare genetic diseases. In this way it will be possible to request it for all newborn babies, regardless of the presence or absence of a recognized risk.

Screening is based on some previous work by the Godler team. Scientists developed a genetic test for the diagnosis of fragile X syndrome, which measures DNA methylation. To do this, only a few drops of the newborn's blood are enough: the test gives its result with a reliability between 92% and 100%.

Additional funds will be needed to expand the research field from the fragile X syndrome. Scientists plan to follow a similar pathway for Angelman syndrome, Prader-Willi syndrome, and Dunp15q syndrome. In fact, according to Godler, the impact of these genetic diseases is very underestimated. A series of neonatal genetic tests would allow to find immediately those who suffer and immediately submit it to the necessary treatment.

Source: fragilexnewstoday.com