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Aurora magazine

The blog about the prenatal genetic of latest generation

A new generation of anti-cancer tests is coming soon

Bioengineer Yaling Liu has developed a tool that improves current diagnostic tests for tumors. To do this, a blood sample is enough, as in the case of fetal DNA tests. The machine isolates the tumor cells in the blood and analyzes the DNA. In this way it is possible to determine the extent of the tumor, the presence of metastases and the effectiveness of the treatments.

Professor Liu's technology is the advanced version of existing tests based on the same principle. Liu's machine, however, uses a microchip that analyzes the blood cells as they pass through. This allows the number of abnormal cells present in the blood to be counted. At the same time, it allows to analyze a single cell to check if it reveals traces of metastasis.

Genetic testing is effective for assessing both the severity of a tumor and the effectiveness of a treatment. Depending on the changes that occur in the genetic expression of cancer cells, it allows to understand if the therapy is working.

Liu's apparatus is part of a clinical trial for a drug against melanoma and renal cancer. The objective of the first phase was to understand if the device could improve treatments and increase their chances of success. To this end, the professor's team analyzed a sample of blood taken from patients before treatment. The results were promising.

The next step will be to follow a group of patients throughout the treatment. The doctors will carry out the test several times, monitoring the progress of the cancer cells in the blood. The second phase should start within a few months.

Source: lehigh.edu

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When infertility starts from the brain

A team of New Zealand scientists has identified neurological factors that underlie some cases of infertility. The key lies in a group of about 2000 neurons that controls the production of kisspeptin. The hormone stimulates the production of luteinizing hormone, one of the male and female fertility managers.

Professor Allan Herbison, lead author of the study, studied the effects of luteinizing hormone. Both low and high levels always make fertility collapse. This means that the levels must go up and down as needed. A change that is too rapid or absent will damage the delicate mechanisms that control human reproduction.

Professor Dave Grattan is studying another factor that influences luteinizing hormone levels. Placing himself in the wake of Herbison, Grattan analyzed the action of prolactin. It has been known for decades that too high levels of prolactin cause infertility, but the reason was unknown. According to Grattan, too much prolactin could influence the levels of the luteinizing hormone and unpack its delicate balance.

An analysis of the neurons detected by Herbison has proven the presence of prolactin receptors. These receptors are able to activate or deactivate neurons that stimulate the production of luteinizing hormone. In this way they adjust the levels according to need. When they do not work properly, this causes abnormalities even in hormone levels and in fertility.

The two discoveries have influenced each other, although they are different projects. Both could pave the way for possible infertility treatments caused by too high levels of prolactin.

Source: nzherald.co.nz

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Doubts about the prenatal effects of a drug against epilepsy

The European Commission is considering a partial ban on valproate sodium during pregnancy. The drug against epilepsy would in fact cause serious risks to the fetus. For this reason, BMJ researchers are discussing the relationship between risks and benefits of treatment.

Sodium valproate has been shown to be effective against epilepsy, bipolar disorder and migraine. In some cases of epilepsy, it is even the only viable option. Unfortunately, it seems that prenatal exposure to the drug greatly increases the risk of malformations.

According to the data, the drug increases by 10% the risk of physical abnormalities and by 30-40% the risk of mental problems. Possible effects include autism spectrum disorders and behavioral deficits. In the United Kingdom alone, children suffering from sodium valproate were 20,000 from the 1970s. On the other hand, the ban of the drug during pregnancy is not an easy choice.

The European Medicines Agency has recommended the use of the drug in pregnancy only in the absence of other therapies. Furthermore, he decreed that it should not be prescribed to women of child-bearing age who do not use contraceptive methods. Unfortunately, not all women suffering from epilepsy know the risks of sodium valproate and not all have alternatives.

Neurologists Heather Angus-Leppan and Rebecca Liu recommend the use of the drug during pregnancy. At least in some cases. According to the two, in fact, an epileptic seizure is a big risk for both the woman and the fetus. If there were no alternative therapies, then it would still be better to deal with the disease. Rather, the real danger would be to continue the therapy without being followed by a specialist.

Source: medicalxpress.com

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Hair color depends on dozens of genes

The color of our hair depends on more than 100 different genes. A team from King's College London identified them during a forensic medicine study. Scientists will use the discovery to determine a person's appearance from DNA alone. In this way it will be easier to identify a suspect of murder or to determine the appearance of an unrecognizable victim.

There are already a number of genetic tests that determine the color of the hair. These tests, however, are very reliable in identifying black hair, much less in identifying those brown or blonde. The London study has made it possible to develop a test that is 10-20% more accurate than the current ones. In case the owner of the DNA tracks has red or black hair, the reliability rate is about 90%.

The color of the hair depends for 97% on hereditary genetic factors. Nevertheless, until today only 13 genes related to this physical characteristic were known. The study of Dr. Tim Spector has identified another 124, thanks to the DNA of almost 300,000 people. Some genes are linked to the regulation of melanin, others determine biological mechanisms.

The new genes identified explain 35% of red hair, 25% of blonde hair and 26% of black hair. It is therefore likely that there are hundreds of other genes involved and still unknown. For the moment the mechanisms underlying these factors are too subtle to be identified. Furthermore, the role of the identified genes is also unclear sometimes.

Some children are born blond and change hair color while growing. The phenomenon certainly has a genetic basis, but scientists have no idea what this is. Even among the new genes, one is missing that can explain the reason for this change.

Source: theguardian.com

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