Aurora magazine

A group of researchers from the Biomedical Research Center in Red de Enfermedades Raras is developing a new therapy against dystrophic epidermolysis bullosa. Their latest study demonstrates the effectiveness of genetic editing, opening the door to future clinical trials.

The researchers tested the treatment only on clinical models, for the time being. However, the first results are encouraging: editing has corrected more than 80% of the patients' cells. Consequently, it can be stated with sufficient confidence that it is safe and efficient. Two fundamental characteristics to test a new therapy on humans.

Dystrophic epidermolysis bullosa is an aggressive form of epidermolysis bullosa. The disease is rare and makes the skin fragile, always full of blisters and wounds. This exposes the patient to complications, including the formation of fibrosis. For this reason, the disease significantly reduces the quality of life of patients and their families. The study authors used CRISPR / Cas9 to correct patients' skin stem cells.

The correct stem cells produced healthy cells, free of the mutation that caused the disease. By transplanting the skin thus produced onto a patient, the entire tissue could gradually be regenerated. Or at least, this is what the preclinical models of the disease imply. The biggest problem with genetic editing with CRISPR / Cas9 was the lack of efficiency. This made it impossible to apply it in clinical therapies, for treatment on patients. Instead, the authors of the study showed a new approach, which could be more effective than editing with viral vectors. Now only the first patient trials are missing.

Source: medicalxpress.com

Depression affects more than 300 million people worldwide and is a major cause of disability. The causes are still partly unclear. The disease is thought to be caused by the interaction of biological, psychological and social factors. It often occurs during adolescence, but remains undiagnosed for years. For this reason it is essential to identify the risk factors in time, so as to intervene as soon as possible. An international team has studied a new method to calculate the genetic risk of depression.

Scientists analyzed genetic variants associated with depression, identified in a sample of 460,000 adults. In this way they compiled a score that reflects the genetic risk of depression, based on the interaction of multiple genes. The individual variants have little impact, but they can be devastating taken together. The method is the same one used to diagnose the risk of diabetes and heart disease. To calculate the score, the researchers used data from adults.

They then applied it to cohorts of children and adolescents to determine the risk of depression. To make the results more precise, environmental factors that increase the likelihood of depression have also been taken into consideration. They then investigated traumatic events and possible abuse suffered by children. According to the authors, there is still a lot of work to do. Nevertheless, the first results seem encouraging. In the future, the multigenic test could be used to calculate the risk of depression. In this way it would be easier to intervene with adequate therapies right away, improving the lives of many people.

Source: uni-muenchen.de

Researchers from the University of Hokkaido have identified a possible therapy for Loricrin keratoderma. This is an incurable skin disease that occurs from birth. For the moment there are only symptomatic treatments, but Japanese researchers have made a discovery that could change things.

The team observed patients' skin for long periods. It emerged that in some places the patients' skin was healthy. The researchers examined the DNA extracted from these cells, looking for mutations that cause the disease. They discovered that in those areas the previously ill skin had returned to normal, the mutations had disappeared. All thanks to a somatic recombination, or natural exchanges of pieces of DNA.

Healthy areas had been present for several years, so the process seems permanent. It is likely that natural genetic editing has affected stem cells, which have therefore produced healthy cells. Now we need to understand how the process occurred, so that it can be reproduced in the laboratory over the entire skin. The researchers also found that cells with the correct DNA reproduce faster. As a result, they are more likely to produce so many healthy new cells that they create visible patches. This gives researchers new hope: if it were possible to induce recombination with drugs, there would be a new treatment against Loricrin keratoderma.

Source: global.hokudai.ac.jp

Researchers from the Air Force Research Laboratory have developed a way to predict cognitive abilities. It is a genetic test that analyzes FTCD, to complement the classic memory tests. According to the studies, in fact, the secret of perfect memory lies in the C allele of the gene, especially for subjects between 18 and 27 years.

FTCD is an enzyme that stimulates the production of glutamate and folate, which is crucial for the development of neurotransmitters. As a result, it could help cognitive skills, albeit indirectly. To test their thesis, the researchers analyzed the DNA of 642 volunteers. Then they compared the data collected with the results of classical cognitive tests. From what has emerged, there really seems to be a correlation between the C allele of the gene and the person's cognitive faculties. Based on the discovery, the researchers hypothesized two possible treatments for the future.

Subjects with a "weak" C allele could take folic acid supplements and perform cognitive exercises. Otherwise, we could think of genetic mini-editing using CRISPR. For the moment, however, it is still early: first we will have to do further tests and understand the real functioning of the gene. The discovery, if confirmed, could have military and civil applications. Genetic tests could identify the best people to perform complex tasks that require a quick way of thinking. Or to help those with cognitive problems.

Source: medicalxpress.com