Aurora magazine

Opitz C syndrome is an ultra-rare disease that causes mental and physical disability. Having different genetic causes, the diagnosis is difficult and often late. Professors Daniel Grinberg, Susanna Balcells and Roser Urreizti are studying the genes linked to the disease.

Their goal is to facilitate the search for new treatments and prenatal diagnosis. This disease, besides being very rare, is characterized by a wide range of clinical patterns. With such premises it is normal for the diagnosis to be difficult. Most patients struggle to find an answer and are often treated for different illnesses due to misdiagnosis. The only way to solve the problem is to apply genetic sequencing.

The study in question aims to create a precise molecular profile of the causes of the pathology. To this end, the researchers examined a series of clinical cases diagnosed as Opitz C. This led them to identify new genetic mutations associated with the DPH1 syndrome, sometimes confused with the Opitz C. The researchers analyzed the effects of the new mutations linked to the DPH1 gene. By applying computational models, they evaluated the properties of these proteins in the mutated and normal versions. In particular they focused on its role during embryonic development.

The ultimate goal is to better understand how the variations work, so that they can be linked to the Opitz C syndrome or not.

Source: eurekalert.org

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

There are many factors that influence assisted reproduction, both positive and negative. Some are not changeable, like ovarian reserves. On others it is easier to act. Among the latter are body weight, nutrition, lifestyle and even smoking. In fact, it appears that smoking negatively affects fertility, also reducing the chances of assisted fertilization success. Those who smoke are on average less fertile: women have fewer eggs available and men have less active sperm.

These negative consequences could also be drawn into IVF. A study has indeed analyzed the effects of smoking on oocytes and spermatozoa from 4747 donors. The researchers divided the donors into three categories: non-smokers, "light" smokers (less than 10 cigarettes a day), real smokers. The analyzes did not reveal significant differences in the percentages of pregnancies carried out.

The most important differences instead appeared during ovarian stimulation. Why? Tobacco smoke contains harmful toxins to gametes. Women who smoke enter menopause 1-4 years before non-smokers. The effects are even more pronounced among those who smoke more than 10 cigarettes a day. For their part, smokers have less sperm, less motility and a higher rate of fragmented DNA. Gamete less healthy already reduce the chance of success. Added to these are the negative effects on metabolism and blood vessels, which increase the risk of miscarriage.

Source: medscape.com