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

One of our ancestors could stretch out new information about a modern disease. The key to understanding and perhaps cure Lesch-Nyhan was indeed hidden in the DNA of a hominid. They discovered researchers at the University of Parma, led by Riccardo Percudani and funded by the Telethon Foundation.

Lesch-Nyhan syndrome is a disease that causes the accumulation of uric acid in the blood. This leads to develop gout, kidney problems, neurological deficits. It is a disease currently lacks an effective therapy, which affects mostly males and is transmitted through the X chromosome The researchers had already identified the genetic abnormality responsible. According to the latest study, however, the key to the problem could be in a protein now lost.

Some animal species have production worker gene for a protein called urate oxidase. The protein is used to prevent uric acid accumulates in the blood, removing the bud the causes of Lesch-Nyhan syndrome. Unfortunately, the human being does not have one, or at least it is at this point in his evolutionary process.

The researchers looked at the genetic heritage of the eight species of great apes, including humans. They then compared with other vertebrates, and have identified the gene for urate oxidase. They have mapped five gene mutations during evolution of hominids, which took place between 20 and 30 million years ago. At this point have isolated a variant in particular, that could work in an optimal way for human beings.

The study comes to the conclusion that the man has lost the urate oxidase in a gradual manner. Along the process is passed through a variant that could be effective even modern humans. The discovery could be crucial to developing new treatments for this rare genetic disorder.

Source: ansa.it

Spinal muscular atrophy is a disease that causes the progressive death of nerve cells in the spinal cord, the motor neurons. These have the task of transmitting commands from the brain to the muscles, allowing voluntary movements. When for some reason do not work in the right way, it becomes impossible to move independently.

There are three forms of SMA: the most serious is the Type 1, Type 2, and then switches to the Type 3, the mildest. SMA Type 1 compisce about half of patients and is often present at birth. The infant shows serious and progressive respiratory insufficiency, which makes it difficult if not impossible selfcontained breathing. In Type 2, the child is able to sit down, but not walk. In many cases shows respiratory complications and other marks. The Type 3 occurs after a few years and, at least during childhood, allows to walk.

At the base of SMA is an anomaly in the SMN1 and SMN2 genes, which causes a deficiency of SMN protein. The protein in question is essential for the survival of motor neurons. Once missing, the motor neurons begin to degenerate in a progressive and irreversible. To manifest, the genetic abnormality must come from both parents.

There is currently no cure for SMA. Research in recent years has, however, clarified several mechanisms, allowing you to make big steps forward in therapies.

An article published in the journal The Lancet reports the results of the Phase 2 clinical trial of Nusinersen. It is an experimental drug intended for the SMA or spinal muscular atrophy. Tests have shown that it is safe and well tolerated by the body. Furthermore, the data show good clinical efficacy on infants with SMA Type 1, the most acute form of the disease.

The trial involved 20 children aged between 3 weeks and 7 months, all with an anomaly in the SMN1 gene. This anomaly is one of the causes SMA. Nusinersen consists of a piece of DNA drawn up as to stimulate the production of the missing SMN protein, directly into the spinal fluid of children. This phase of the research was to assess the safety of the drug against spinal muscular atrophy, as well as its effectiveness. In this respect, the very positive results would appear: Nusinersen is safe enough and it seems to slow down the progression of the disease.

According to the researchers, Nusinersen would even managed to transfer patients from a disease of type 1 to a type 2. In both cases, the children would even started walking, which would make them switch to a SMA type 3. This it means that the drug would be able to lengthen the life of children expectations, while not curing them in a definitive manner. Younger patients treated with Nusinersen seem to be able to live longer and better, which would be a big step forward.

Before the drug is marketed will require further trials. Meanwhile, researchers are trying to expand the program, so as to allow more children to access it. The next step will be to test the safety and efficacy in children from 6 weeks up.

Source: smanewstoday.com