Aurora magazine

A new gene therapy has given exceptional results on 9 children with myotubular myopathy (MTM). The disease causes extreme muscle weakness, which occurs immediately after birth. All the small patients have recovered part of the muscular functions, so that 4 of them can breathe on their own.

The trial involved 9 children from 8 months to 6 years of age, all suffering from X-linked myotubular myopathy. The doctors gave them an intravenous infusion, containing billions of viruses rendered harmless. The viruses injected a corrected version of the MTM1 gene into the patients' muscle cells, eliminating the abnormal one. In this way they restored myotubularin production.

The therapy caused serious side effects in 3 patients, including cardiac inflammation. The doctors were able to tackle all these problems, which then came back. At 48 weeks after therapy, the muscle cells of the first 6 patients were producing about 85% of normal myotubularin levels. The muscle fibers had grown and 4 of them were able to sit alone; 3 even managed to walk with a little help. While continuing to receive artificial nutrition, several of them also began to eat normal food.

Some patients were able to articulate a few words. Doctors gave a higher dose of gene therapy to 3 patients. In these cases, the scientists detected the same improvements but many weeks in advance. Encouraging results, but to be confirmed with further studies and trials.

Source: sciencemag.org

Entire teams of scientists are testing genetic editing at various stages of a person's life. Some of these are developing therapies for adults, others are thinking about how to eliminate diseases from IVF embryos.

A Philadelphia team used CRISPR to heal a guinea pig still in the maternal uterus. In utero editing offers a wide range of benefits in the case of some diseases. According to Dr. William Peranteau, in some cases intervening at the time of delivery is intervening too late. This is what happens with SFTPC gene mutations, linked to severe lung diseases. Under normal conditions, these anomalies lead to the death of the child during childbirth.

That's why it's important to take action as soon as possible. Philadelphia scientists injected correct versions of the gene into the amniotic fluid of some pregnant guinea pigs. The viruses that carried the gene reached the fetus and corrected part of the cells, at least in 20% of cases. In this way the babies are born with far fewer non-functioning cells and have survived the birth.

Performing this operation in an embryo would alter all the cells, which could be excessive. It would also affect germ cells, making any abnormalities introduced by CRISPR inheritable. An unacceptable risk for many scientists, because it could cause the birth of new genetic diseases.

Source: statnews.com

We are used to talking about the female biological clock, when we approach the topic of fertility. Still, the paternal age could be just as important according to a study led by Dr. Gloria Bachman.

The doctor's team examined data from over 40 years of research on male fertility. From what has emerged, men should consider having children or freezing their sperm within the age of 35. As they age they can still have children, but there is a decline in fertility and increases the risk of transmitting genetic defects. In fact, testosterone decreases with age and this affects the quantity and quality of spermatozoa.

The average age of aspiring parents is increasing: in recent years, there has been 10% more men who have had children after age 40. Although undervalued, this is a problem that affects the health of newborns in so many ways. According to some studies, it could even increase the risk of tumors, psychiatric illnesses and cognitive disorders.

The authors of the study recommend men over 35 to treat fertility like women of the same age. If they plan to have children far ahead in life, it would be better if they kept their sperm a few years in advance. Otherwise, make sure to perform prenatal tests to check the health of the fetus.

Source: thenational.ae

According to researchers at the University of Birmingham, progesterone could help against bleeding in the first months of gestation. Moreover, the chances of success would increase in those who have a history of spontaneous abortions behind.

The researchers involved 4,153 pregnant women with bleeding problems, average age 31 years. Early bleeding is usually linked to spontaneous abortion, which affects about one in five women. The researchers then administered progesterone to half of the women, while the other half received a placebo. In this way they tested a hypothesis that emerged during many small studies: does the hormone really reduce the risk of abortion?

The data show a modest improvement among women in the first group, especially among those who had experienced more spontaneous abortions. Compared to the control group, there was 4% more pregnancies. Out of 777 of them, 591 (76%) completed the pregnancy. Out of 738 of the control group, 534 (72%) pregnancies were completed. The role of progesterone during gestation has now been discussed for 60 years. Along with another study with about 4000 participants, this Birmingham confirms what was suspected: progesterone helps prevent spontaneous abortion.

A discovery that could help thousands of women who have lost one or more children, apparently without reason. The authors of the study hope that the discovery will help to renew the guidelines of the National Institute for Health.

Source: bham.ac.uk