Aurora magazine

One of the possible applications of Crispr is linked to genetic hereditary diseases. The researchers hope to be able to use it to correct genetic defects in the embryo, avoiding that the diseases occur. However, it is still early for practice, as it still has obscure and unknown points. Weill Cornell Medical researchers in New York proposed an alternative: change sperm DNA.

Manipulating the sperm DNA is very difficult: in spite of the very hard membrane, they are delicate cells. Researchers used a new approach to making changes without destroying sperm. They subjected the cells to an electrical impulse, thus penetrating the Crispr system. The spermatozoa left the treatment a little slowed down, but still able to fertilize and usable in in vitro fertilization.

The work was presented at the Congress of the European Society of Human Reproduction and Embryology. According to the New Scientist magazine, arriving at this conclusion was a real challenge. The researchers needed many attempts to find the ideal impulse: 1,100 volts for 20 milliseconds.

The discovery would allow to treat genetic diseases at the source, at least in the case of those transmitted by the father. It is estimated that the genetic diseases caused by a single mutated gene are more than 10,000. The discovery could therefore avoid the transmission of diseases such as sickle cell anemia, cystic fibrosis and some forms of muscular dystrophy. However, it will still take some time to conduct further studies and analyze any negative effects.

Source: focus.it

Sickle cell anemia is an inherited genetic disease that affects red blood cells. The cells of those who suffer are in the shape of a crescent and are rigid, tending to aggregate. This makes it more difficult for them to move through the blood vessels and slows blood flow. In some cases, the modified red blood cells come to block circulation.

One of the major risks related to sickle cell anemia is ischemia. Because of the mutated red blood cells, the tissues do not receive enough blood and the cells die. Furthermore, the blood cells are more fragile than normal and this leads to a severe form of anemia.

The cause of sickle cell anemia is a mutation in the gene that regulates the production of hemoglobin. Protein is essential for the proper functioning of red blood cells and is what makes oxygen transport possible. In order for the disease to manifest itself, the genetic anomaly must be inherited from both parents. Otherwise, you are only healthy carriers.

Sickle cell anemia usually occurs around the fourth month of life. Among the symptoms there are:

• Anemia. Sick red blood cells die in 10-20 days instead of 120 days. This causes a chronic cell deficiency, which in turn causes weakness, fatigue, visual difficulties, pallor.
• Pain. People suffering from sickle cell anemia experience sudden painful crises, which can be longer or shorter. The aggregates of diseased red blood cells cause them, which hinder the passage of blood. Pain affects chest, abdomen, joints.
• Extremities of swollen limbs.
• Infections. The spleen is damaged by the diseased blood cells and fails to perform its functions within the immune system
• Growth delay.
• Poor eyesight.

Source: humanitas.it

An international research team has developed a genetic test for acute myeloid leukemia. The test identifies the first signs of the disease in healthy individuals, allowing it to be diagnosed even 10 years in advance. This allows to proceed with therapies that block pre-leukemic alterations in the bud.

The researchers identified those affected by genetic mutations related to this severe cancer of the blood. According to reports, the anomalies can be detected in the blood up to 10 years before acute myeloid leukemia develops. A very broad time window, which gives ample room for prevention and could reduce the mortality rate. It is estimated that 90% of those who get sick after age 65 can not do it.

In 2014 Professor John Dick, one of the authors of the study, had discovered pre-leukemic stem cells in a blood sample. Although these stem cells still behave normally, they already show the first anomalies that will lead to the disease. Starting from this first observation, the professor began to observe the evolutionary process of the cells. He found that the first traces of leukemia are detectable long before the symptoms occur.

To support the thesis, Dick and colleagues examined 550 thousand people. They have studied the state of health and lifestyle over the course of 20 years, identifying all the factors related to the risk of cancer. 124 participants became ill with acute myeloid leukemia 6-10 years after the start of the study. The researchers compared them with 676 people of the same age but healthy, so as to identify any genetic differences.

Thanks to a genetic sequencing tool, the researchers identified genetic alterations typical of the disease. They also found that alterations were present and detectable long before leukemia developed. Now they are hoping to use this discovery to develop screening tests available to everyone, so as to facilitate the prevention of acute myeloid leukemia.

Source: quotidianosanita.it

The cases of anxiety and depression in pregnancy have increased by 51% in a depression. This is the proof of a study by the University of Bristol. The researchers looked at the questionnaires of two generations of pregnant women, comparing the levels of pressure over the last 20 years. From what has emerged, there has been a sharp increase in the problem.

The study authors involved 2,390 pregnant women in the 1990s and 180 women born in those years. Among the latter the symptoms related to anxiety and depression were 51% more common. Today 25% of mothers under 24 years suffer from depression, compared to 17% in the 90s. Furthermore, the daughters of depressed mothers showed 3 times the risk of suffering from the same problem.

It is the first time researchers compare mental health in two generations of pregnancy. It was possible thanks to the data collected in the 90s and concerning the topic. It also allowed to analyze the differences in symptoms between generations of mothers. The future mothers of the 90s felt down and apathetic, while those of today are much more stressed. The next step will be to understand the reason for this increase and how to deal with it.

The study is important both for the health of future mothers and for those of children. The depression in pregnancy has indeed an important impact on fetal development and on the health of the child. Understanding how best to deal with it and keeping an eye on those most at risk would be a big step forward.

Source: bristol.ac.uk