Aurora magazine

A team from the University of Trento has developed a new genetic editing technique. It is called evoCas9 and is even more precise than Crispr / Cas9. According to the authors of the study, this technique will make it possible to correct alterations related to genetic diseases and tumors.

The Cas9 molecule used for Crispr modifies the gene that interests and the one around it. In this way it causes further mutations that are difficult to predict, which could have negative consequences in turn. Instead, the new technique uses an enzyme that can modify only the point that interests it. Thus evoCas9 could be exploited also in non-medical sectors, such as livestock and agriculture.

The name evoCas9 comes from the process behind the development of the molecule, similar to the Darwinian evolution. The Cas9 molecule is born in bacteria and is inaccurate to protect the body against all foreign DNA. The researchers have therefore made it evolve in the yeasts, which are simple but more like human cells. Generation after generation, they have selected the most accurate versions until the desired result is achieved.

Once the extremely accurate Cas9 version was obtained, they experimented with evoCas9 on human cells. Compared to the original Crisp / Cas9, the new version has only four different amino acids and a completely different selection criterion. To develop the original editing technique, US researchers had relied on algorithms. Instead, Italian researchers have evolved their molecule in vivo.

Source: repubblica.it

Smith-Lemli-Opitz syndrome (SLO syndrome) is a genetic disease that affects about 1 child every 20,000 / 40,000. Transmission is autosomal recessive, so it has a 25% recurrence risk. Most cases are evident from birth, but the diagnosis of some mild forms can only come into adulthood.

The most characteristic symptoms of SLO syndrome are microcephaly, facial dysmorphism, mental retardation, behavioral disorders. The latter include mainly autism spectrum behaviors, hyperactivity and self-harm. Some subjects also show ocular disorders ranging from cataracts to retinal degeneration, resulting in blindness. Others show congenital cardiopathies and gastrointestinal abnormalities.

The cause of Smith-Lempli-Opitz syndrome is a metabolic disease caused by a mutation of the DHCR7 gene. This causes problems in the synthesis of cholesterol, lowering its levels excessively. The absence of cholesterol therefore translates into the physical and neurological deficits mentioned above.

The diagnosis of SLO can also occur in the prenatal stage. Prenatal screening such as fetal ultrasound, amniocentesis and villocentesis are able to tell whether the fetus is ill or not. In the case of a positive diagnosis, only symptomatic therapies are available today. It proceeds then integrating the missing cholesterol and treating any malformations. In severe cases, these lead to an early death.

Source: ospedalebambinogesu.it

The data show that pollution is the leading cause of male infertility. It is estimated that the number of sperm produced by each man has halved in the last 30 years. According to some participants at the Florence congress on PMA, the situation could even get worse. As exposure to fine particles increases, in fact, the risk of male infertility also increases.

The possible threats to male fertility are much more than what we tend to imagine. Thin powders cause about 60% of male infertility problems. The problem affects in particular men who live in large cities, or are exposed to large quantities of pollutants. The Pescia area in the province of Pistoia, for example, is very interested in the pollution caused by fertilizers and fertilizers. This was reported by Professor Luca Mencaglia of the PMA center of the South-East Asl Tuscany.

But there are also other factors among the culprits. Smoking and alcohol are among the main causes of infertility, together with pollution. Excessive exposure to heat and radiation can also be a problem, especially for workers and cooks. Furthermore, the plastic used for the packaging of water and food is another risk factor for both women and men. If left in the sun, water bottles can release synthetic estrogens. In the long run, these can cause infertility.

Source: ansa.it

According to a study led by Dr. Lakshmi Sukumaran, vaccinating during pregnancy is safe for the fetus. Children exposed prenatal to the vaccine showed the same levels of hospitalization and death of others. It follows that the vaccine does not damage the fetus and does not cause post-partum consequences.

The American ACIP has advised future mothers to make the flu vaccine and the Tdap against diphtheria and pertussis. There are indeed many studies that attest to the safety of vaccines during pregnancy. However, data concerning the long-term effects on infants exposed prenatally to the vaccine were in short supply.

Dr. Sukumaran's team analyzed data from 413,034 newborns born between 2004 and 2014. The mothers of some of these children had been vaccinated during pregnancy. The doctors then made a 1 to 1 comparison between children exposed to vaccines and those not exposed.

Of the children analyzed, about 25,222 were hospitalized in the first 6 months of life and 157 died. Among hospitalized children, 4,644 (18.4%) had a respiratory crisis, caused in 2.2% by influenza and in 3% by pertussis. In 9% of the deceased children the cause of death was a respiratory crisis.

Later, researchers sought a possible link between vaccines, hospitalization and death. No link between these factors emerged from the data, although follow-up was longer than that of similar studies.

Source: medscape.com