Aurora magazine

With the expression xeroderma pigmentoso refers to a group of hereditary genetic diseases. Pathologies cause extreme sensitivity to ultraviolet radiation, making it impossible to expose oneself to sunlight. Those who suffer are likely to develop injuries to the eyes and skin, which can degenerate into tumors.

The pigmental xeroderma manifests itself in the first months of life. The first symptoms are skin spots on areas exposed to sunlight and eye irritation. The child manifests an extreme dryness of the skin, which makes it very fragile. In late-onset forms (15-40 years), it can also develop neurological abnormalities or development.

The severity of symptoms and the age at which they occur can be very variable. The researchers identified 7 groups of pigmentary xeroderma, each with its own genetic characteristics. The genes involved are mainly related to the DNA repair process, so the code inside the cells can no longer correct the damage.

The transmission of diseases occurs in an autosomal recessive manner: in order to manifest themselves, two altered copies of the gene must be inherited. If the genes involved are known, prenatal diagnosis can be made. Otherwise, the diagnosis is made primarily through clinical observations and a test that examines the self-repair ability of the fibroblast DNA, the skin cells.

Today there is no resolution therapy against pigmentary xeroderma. Doctors recommend avoiding exposure to sunlight to reduce the risk of cancer injury. Those suffering from the disease must also avoid halogen and neon lamps, sources of ultraviolet radiation. Moreover, given the impact on the life of those who suffer, we also recommend adequate psychological assistance.

Source: telethon.it

Scientists at the Wellcome Sanger Institute, Wellcome-MRC Cambridge Stem Cell Institute and the University of Cambridge have made it easier to predict chronic blood cancers. The merit is the combination of genetic tests and patient clinical information. The mix allows to accurately predict the prognosis of patients with myeloproliferative neoplasms. The study also identified 8 genetic subgroups of the disease, linked to specific patterns of symptoms and prognosis.

Myeloproliferative neoplasms are blood cancers that affect approximately 30,000 patients in the UK alone. They are chronic tumors, which increase the risk of emboli and bleeding. In addition, these tumors can lead to more advanced forms of cancer, such as acute leukemia. As a result, it is essential to find out as soon as possible how the cancer will evolve. In this way, doctors can prescribe customizable treatments that reduce risks.

The classification of chronic blood cancers dates back to the 1950s and includes three categories. In recent years, the classification system has proved to be inaccurate. It is difficult for doctors to assign the most appropriate treatment to patients and to predict how their condition will evolve. The researchers then analyzed the biological factors underlying these neoplasms, so as to identify the genetic subgroups and link them to the clinical symptomatology.

The study combines genetic information from each individual patient and clinical information. Compared to traditional methods, this makes it easier to get personalized predictions. In this way, it is also easier to develop tailor-made therapies, rather than pre-defined categories. In the future it may make it possible to identify the most at-risk patients well in advance. The umpteenth demonstration of the many possible applications of genetic tests.

Source: eurekalert.org

Pregnant women who have suffered from depression or bipolar disorder read the expressions of newborns differently. This also happens to those who have not shown any sign of discomfort during the gestation. It could therefore be indicative of a high risk factor for the children of these women. This is revealed by a pilot study, but more research will be needed to confirm the findings.

The researchers involved: 22 pregnant women with a history of depression behind; 7 pregnant women with a history of bipolar disorder behind; 28 healthy pregnant women; 18 non-pregnant women. The women were all between the 27th and the 39th weeks of gestation.

Scholars have shown pictures of sad and happy faces of adults and newborns. Women had to rate each photo, based on the rate of "happiness" or "sadness". Dr. Anne Bjertrup reports that the responses of women with a history of depression or bipolar disorder were very different. As a result, they may have more difficulty interpreting children's signals and expressions.

Pregnant women with a history of bipolar disorder have had difficulty recognizing all expressions. In general, they have mainly identified positive expressions in adults and children. Conversely, those with a history of depression have identified negative expressions with greater accuracy. However, this is only a pilot study, therefore limited. Dr Bjertrup emphasizes that it will be necessary to repeat the study with a larger sample of women.

Depression and bipolar disorder are largely hereditary disorders. Those with depressed parents have a 60% chance of suffering from a mental disorder. In addition to genes, the quality of interactions with the mother also plays an important role. The response to the signals of the newborn could be one of the key factors, but it will be necessary to explore the matter with greater care.

Source: medicalxpress.com

A team of Chinese researchers has sequenced the genome of over 140,000 women. This is the most important large-scale genetic analysis carried out to date on Chinese people. Data come from prenatal screening tests and include a representative sample of the entire population. The analysis is still ongoing and could reveal new information on the traits and predispositions of the population.

In the past, the cost of genetic sequencing was too high to study the genetic evolution of the genetic population. Collecting data from hundreds of thousands of people was virtually impossible. On the other hand, the number of women recurring - and recurring - to the fetal DNA test was increasing. The number has grown over the years and it is estimated that to date they have used about 6 million Chinese women. The principal author of the study, Xun Xu of the BGI-Shenzhen center, took the ball.

Fetal DNA testing is a milder sequencing than that performed for research purposes. In fact, it collects about 6% -10% of the entire genome. Nevertheless, it allows access to a huge amount of data and to have a much broader view of the genetic heritage of a people. Precisely for this reason, it represents a unique tool to analyze more closely a diverse people like the Chinese one.

The study involved 141.431 women belonging to 36 of the 55 ethnic minorities present in China. The data therefore represent about 1 / 10,000 of the Chinese population, a large and varied sample. The study therefore offers a fairly faithful portrait of today's China from the genetic point of view. However, there are some limitations.

Prenatal screening tests have not been able to provide accurate data on individuals. Furthermore, there is about 20% of the genome in which the data to be analyzed are missing. However, this is a huge step forward, which has allowed us to compare the genome of different populations.

Source: eurekalert.org