Aurora magazine

Experimental treatments based on genetic editing are flourishing in recent years. Dr. Matthew D. Disney has chosen a different approach. The chemist has developed a molecule that acts on RNA and cancels the products of some genes. In fact, the procedure would allow to correct genetic defects with a pill. For the moment it is still science fiction, but the road seems to be the right one.

Research shows that RNA could be an excellent target for precision medicine. The molecule developed in fact acts on the group of molecules that regulates gene expression, not on the genes themselves. The drugs deriving from the Disney molecule would leave the genes intact, acting instead on their functions.

Approximately 70-80% of the genome is transcribed into the RNA. The latter, however, would be much easier to modify than the genes themselves. Just have the right tools, just like the Disney molecule. This acts in a selective way on a specific RNA molecule, destroying any toxic products of the genes. In this way it would avoid the occurrence of many genetic diseases.

Disney has called the new RIBOTAC technology. To test it the biologist has targeted the enzyme Rnasi L, which plays a critical role in the antiviral immune response. It is present in small amounts in all cells and serves to protect us from the intrusion of viral RNA. Thanks to RIBOTAC, Disney has destroyed a molecule of microRNA linked to it, decisive in the proliferation of tumors.

The Disney molecule has been shown to activate the natural defenses of the human body, destroying the RNA due to the tumors. However, the applications could be much wider and could even affect genetic diseases that are now incurable.

Source: scripps.edu

Fetal magnetic resonance imaging (MRI) can detect holoprosencephaly as early as the 18th week of gestation. According to a study published in the American Journal of Medical Genetics. According to the authors, this would allow to intervene as soon as possible with treatments aimed at curbing the disease.

Holoprosencephaly is the failure to separate the two cerebral hemispheres. The cause is mainly genetic, but environmental factors also contribute. Among these are gestational diabetes and the use of certain medications during pregnancy.

The study demonstrates that some signs of the disease can be identified by simple magnetic resonance. These include:

• facial malformations;
• abnormal shape of the head;
• craniofacial defects;
• defects in the volume of the temporal lobes.

Ultrasounds are able to diagnose the most serious forms of the disease, linked to obvious facial anomalies. Unfortunately, however, they are often unable to make a distinction between holoprosencephaly and other brain abnormalities. For example, it is easy to make confusion with an excess of cerebrospinal fluid accumulation. Ultrasound becomes clearer only from week 24, when it is often too late to carry out effective treatments.

According to the team, fetal magnetic resonance imaging is much more accurate and faster than ultrasound. This screening tool has proven effective since the 18th week and sometimes even the 16th. To guarantee an accurate diagnosis, however, two elements are needed: very clear images; consulting a specialist.

Source: childrensnational.org

A study of over 848 Australian and New Zealand women has proven the ineffectiveness of acupuncture in in vitro fertilization. The researchers involved 16 fertilization centers spread between the two countries between 2011 and 2015. During this time, they submitted the participants to acupuncture sessions before and after the embryo transfer. The aim was to verify the impact of the practice on assisted fertilization techniques.

Half of the women received a real acupuncture session. The others, instead, were subjected to "placebo" sessions: the needles were not inserted and were far from the points used in acupuncture. Has acupuncture increased the IVF success rate? According to the data, it would seem not. The rate of births in the first group was 18.3%, compared with 17.8% in the second group. A non-significant difference.

According to Professor Caroline Smith, lead author of the study, the data only prove the ineffectiveness of short-term sessions. According to him, the clinical practice of acupuncture is much more personalized and lengthy. Women who intend to follow it, undergo repeated sessions even before the IVF cycles begin. It follows that the study would not reflect clinical reality.

The effectiveness of acupuncture in in vitro fertilization appears to be null. Nevertheless, the practice could have positive psychological consequences. Women who undergo these cycles of acupuncture show greater peace of mind than those who do nothing. This could translate into benefits also for fertility.

Source: nicm.edu.au

The team of Dr. Daniel Weinberger has discovered a new possible origin of schizophrenia: the placenta. According to the study, an abnormal placenta could influence brain development and contribute to the manifestation of schizophrenia. Any complications in pregnancy make the phenomenon even more likely.

Schizophrenia is a psychiatric illness that causes visual and auditory hallucinations. Usually it manifests itself in adolescence or around twenty years. In 2014, a study identified 108 regions in our DNA related to the disease. Nevertheless, it is thought that the causes are a union of genetic and environmental factors. Complications during childbirth and childhood traumas would seem to play an important role, for example.

Dr. Weinberger's team investigated the link between genetics, pregnancy complications and schizophrenia. In particular, the researchers focused on a group of complications already previously linked to the disease. These include infections in pregnancy, pre-eclampsia, reduced weight at birth, risky birth. At least 1 pregnancy out of 5 experiences one of these problems, yet only 1% of the population suffers from schizophrenia. This means that there is no link between disease and complications.

For the present study, scientists analyzed data from nearly 2,900 people. Some of these were schizophrenic, others presented similar problems but did not manifest the disease. It has emerged that the 108 DNA regions of schizophrenia are also associated with complications during pregnancy. In fact, almost half of these are related to the development of the placenta. The cause of the manifestation of the disease would therefore be in a bad functioning of this organ.

The incriminated genetic anomalies cause a narrowing of the placenta. This causes a decrease in nutrients and oxygen that reach the brain of the fetus, perhaps laying the foundations for the manifestation of schizophrenia later in life.

Source: newscientist.com