Aurora magazine

The CRISPR is the technology that is revolutionizing the genetic editing, offering new ways to deal with genetic diseases and more. Researchers at the Weizmann Institute of Science have combined this tool with the profiling of genomes of single cells. They have thus obtained an invaluable research tool, which could respond to questions now defaulted and help in the diagnosis of a large number of diseases.

The CRISPR is a technology that allows you to manipulate the functions of genes in a single cell. This way you can act on genetic abnormalities, but not only. At each change are in fact different results, which allow you to better understand the functions of individual genes. Just as an experiment to obtain data once obtainable with thousands of hours of work. Data applicable to medical research, the understanding of how some diseases and their diagnosis.

Often the only results obtained with the CRISPR are not clear enough. Hence the team of Weizmann Institute of Science has combined with RNA sequencing. The latter is a rapidly developing sector, which is affecting in an important way on many areas of research and biotechnology. Through messenger RNA sequencing of individual cells, you can identify the role and functions. You can use the technique of thousands of cells at once, giving to each of them its own niche in the population as a whole. In this way scientists can study things like the development of the fetal brain, or how it evolves a cancer in the body.

The authors of the study have had to make changes to the CRISPR technique, so as to adapt it to RNA sequencing. Their version is capable of targeting multiple genes at once, some of which inside the same cell. The result is a technology that allows you to connect cells with similar behavior between them and identified novel functions for certain types of genes. Moreover, data are obtained with a molecular precision, obtainable in a fraction of the time required by other technologies.

If it continues to prove its effectiveness, the new technology will provide valuable data for understanding the development of cancer and other diseases. An increased awareness that will be essential for the development of treatments and in the case of genetic diseases, also for the development of methods for prenatal diagnosis.

Source: phys.org

Scientists of four large US institution have joined forces to improve the diagnosis of rare genetic diseases. They are in fact combining the descriptions of the clinical features of patients with their genetic information.

In this way they started it unified analysis, seeking to more easily identify the diseases that involve more than one gene. The study is contributing to a better understanding of a large number of diseases, giving also its contribution to the prenatal screening techniques.

When looking for the cause of certain genetic diseases, we tend to locate in the mutation of a single gene. Yet according to Dr. Tamar Harel, one of the study authors, in many cases the genes involved are at least two. This creates a picture far more complex and difficult to decipher. To facilitate the diagnosis, the researchers decided to use a complete genome sequencing.

The scientists analyzed all the genes of 7,400 patients, all unrelated to each other. The purpose was to identify the genetic causes of their conditions, the result achieved in 2,076 patients, and about 28%. Of these 101, about 5%, were linked with a two or more genes of various diseases. A situation that, analyzed with traditional diagnostic tools, inevitably leads to inaccurate diagnosis because of the presence of different clinical features.

In some cases the symptoms of two different pathologies are partly overlapping. This leads perhaps to identify a single disease, tralasciandone another a little more hidden. In other cases, however, the presence of a large number of clinical features leads to allocate the case to a new unknown pathology. This makes the treatment less effective. In these situations it is therefore essential to intervene with a DNA test, as in the case in question.

The study allowed and is allowing to obtain a more complete perspective of how genes and physical traits relate. It is a key step in an era when medicine is becoming more personalized and precision. Thanks to it not only many patients have found an answer to their questions, but researchers have collected valuable data for diagnosis and prenatal screening tomorrow.

Source: news-medical.net

A team from the University of Kobe discovered a non-invasive prenatal testing for cytomegalovirus infection. It is a safe method for both the fetus and the mother, which may soon become of common use. If not detected early, congenital CMV infection is indeed cause hearing loss and mental retardation.

It is estimated that in the US more than 8,000 children a year suffer complications due to CMV. The doctors are fighting congenital infection with antiviral agents, given to infants come into contact with the virus. However, this presupposes an almost immediate diagnosis, currently only possible with special tests. They are DNA tests on the baby's urine, precise but difficult to extend to the entire population of newborns. A more realistic approach is to perform the analysis only on children born to women at increased risk, but it is not always feasible.

To identify the risk of infection with cytomegalovirus is made of an immunoglobulin M. testing If the test is positive, the infection is more likely. The test, however, is very prone to false positives. It is common that the test is positive even many years after the first infection, which makes it unreliable. A more accurate method would be a DNA test taken from the amniotic fluid, but it is an analysis that many women may be too invasive. That's why the Japanese team has searched for a safer method.

The study involved 300 women testing positive for immunoglobulin M. The researchers performed DNA tests on blood samples, urine and cervical secretions. They also looked for any traces of infection in the fetus, by examinations with ultrasound. The team then analyzed all these results from a statistical point of view, the combination of data with any fetal malformations. It was found that the analysis of cervical secretions have provided most of the cases of infection with cytomegalovirus. In case of positive results in preliminary tests, could therefore confirm or deny, enabling you to intervene to time with the best treatments.

Genetic analysis are performed also in other prenatal exam such as fetal DNA test. 

Fonte: news-medical.net