Aurora magazine

The National Academy of Sciences (NAS) and the National Academy of Medicine (NAM) have released the first international guidelines regarding the genome editing. The document relates to the manipulation of DNA in gametes and embryos in the early stages of development, for the time being prohibited. With the development of gene editing techniques, however, it becomes increasingly likely a future application also to the germ lines.

Techniques such as CRISPR made the editing of the genome more accurate and less expensive. This has opened new opportunities both in research and in the clinical setting. For the moment, however, the applications are limited to non-germline tissues, which then only touch the patient. The application on germline tissues, however, would make the changes inheritable, and would affect future generations. The event has raised and raises many questions of a scientific nature and ethics, which is why NAS and NAM have gathered a team of experts that their evaluation of the consequences.

The document supports the application of gene editing to the treatment and prevention of serious disease and disability. In the case of modifications of the germ cells, however, it highlights the risks of a drift eugenics and unpredictable consequences on future generations. Further studies are indeed needed to understand and quantify the risk of introducing new genetic anomalies by mistake. On the other hand, the genome editing may delete a large number of genetic diseases that are incurable today.

For the moment the genetic editing of germ cells is prohibited in both the US and in our country. In Italy exception couples silent carriers of healthy genetic diseases, which can also access prenatal screening test prior to implantation of the embryo. In case of change of the rules, the guidelines recommend a set of criteria before allowing editing of germ cells. Some of these are:
• no valid alternatives;
• application only to genes associated with severe disease;
• disclosure of preclinical and clinical data indicating the risks and benefits;
• monitoring of the parties involved and their children.
Source: osservatoriomalattierare.it

An international team of 32 experts of the Cystic Fibrosis Foundation has drawn up new guidelines for the diagnosis of cystic fibrosis. The experts came from 9 countries and have dealt with the review of the literature. The operation led to the writing of the 28 recommendations, 27 of which were approved by a vote of more than 80% of the commission. The study is available for free in The Journal of Pediatrics, and aims to improve the detection and treatment of the disease.

Among the most important changes is the adoption of the latest classification of CFTR mutations, the gene associated with the disease. The scientists collected data from patients from all over the world, so as to quantify and describe the possible abnormalities of the gene. In particular, they are resting on those from CFTR2 project, namely "Clinical and Functional Translation of CFTR." The project began in 2008 and has so far described 300 mutations in the CFTR gene on the more than 2,000 known.

Grading of CFTR mutations led to a their categorization. Researchers have distinct mutations explicable to the disease, the cause of other diseases, those nationally unrelated to cystic fibrosis and those unknown. In cases where DNA tests to identify a gene mutation, the researchers recommend that lean to the definitions of CFTR2 to see if this is transmissible and bearer of the disease.

In the case of carriers of the mutated gene parents, a neonatal screening test for the presence of the genetic defect in children is available. Unfortunately, the test is still little used sometimes fails to identify the disease. In the case of parental genetic predisposition, doctors then recommend to also make a post-neonatal period tests. The test detects a presence in the sweat of high levels of chlorine, indicating the malfunctioning CFTR.
As part of the sweat test, the researchers lowered the threshold of suspicion of cystic fibrosis diagnosis. Whereas before the concentration of chlorine was suspected of 40 mmol / l and 30 mmol / l depending on the age, now it is a0mmol / l to 20 mmol / l. With 60 mmol / l the diagnosis of cystic fibrosis is certain.

During pregnancy it is recommended that the mother monitors the health of your baby: the prenatal screening tests are useful because they can detect the probability of the presence of chromosomal abnormalities in the fetus.
Source: pharmastar.it

A study by Allison W. Kurian, University of Stanfort, reveals that very few women with breast cancer diagnosis have used genetic testing. The team involved women between 20 and 79 years suffering from forms of the stage 0 breast cancer at stage 2. The researchers asked the patients to answer the questionnaire two months after the tumor removal operation. The response has indicated that only 29% of patients had carried out genetic tests.

The tests for the identification of the BRCA1 and BRCA2 genes are available for over 20 years. In recent years, thanks to advances in technology and science, have become more effective and less expensive. Nevertheless, there are still few patients know the benefits arising from the tests. The study therefore investigated how many patients would have carried a genetic test; how many patients they had talked to a doctor; how many had been performing the genetic test.
Of all the patients interviewed, are more than 2,500 women who responded to the questionnaire, namely 71%. Of these, 66% said that they would carry a genetic test, but only 29% have actually done. Of this 29%, 62% were high-risk women who had consulted with a doctor about it. What is amazing is that only 40% of high-risk women had been advised to take the test by a doctor. This means that many women have not been made aware of a large prevention weapon.

Only 53% of high-risk patients had in fact performed the genetic test. According to the study, much of the blame would be treating physicians, that they would not recognize the high-risk situations and the importance of a genetic test. Contrary to what previously believed, the cost of genetic screening would have a role, but not of primary importance.

Source: eurekalert.org

A group led by Mark J. Caulfield, Queen Mary University of London, has identified 107 regions of DNA linked to hypertension. The discovery could help identify patients most at risk, offering them of early treatment. It will also facilitate the search for new drugs against high blood pressure.

The researchers analyzed 9.8 million genetic variants detected by the genetic material of more than 420,000 Britons. They then compared the results with the blood pressure levels of the subjects. The comparison emerged 107 DNA regions expressed especially in the blood vessels and cardiovascular tissue, spread among those suffering from hypertension. These regions may become a target for new drug treatments, improving the quality of life of a large number of patients.

From the stories of the data, the researchers developed a method to identify those most at risk of stroke and cardiovascular disease. The technique involves a points system, which assigns a more or less high risk score based on blood pressure and genetic predisposition. According to this system, every 10 millimeters of mercury in the blood pressure more, the risk can also go up by over 50%.

The method could help identify those at risk from the earliest years of life. This would allow them to adopt the style of better life to avoid complications, as well as to resort to custom treatments. This would make it possible to save the lives of hundreds of people, drastically reducing the risk of heart disease and stroke.

Source: salute24.ilsole24ore.com