Aurora magazine

A genetic therapy administered in utero to defeat a deadly disease. This is suggested by a study conducted for now only on animal models. If the results were positive, there would probably be a way to minimize the consequences of certain genetic diseases. Although the US Food and Drug Administration has approved the first gene therapy, it will take some time before this treatment becomes effective.

Dr. Simon Waddington's team used prenatal gene therapy against Gaucher disease. The disease is caused by an abnormality in the GBA gene, which prevents lipid disposal. These accumulate in the brain cells and in the rest of the body, preventing its functioning. The disease causes irreparable brain damage and leads to death.

In some forms of the disease, it is possible to introduce the missing enzyme into the body and destroy part of the accumulations. Unfortunately, the enzyme responsible for the process does not cross the barriers of the brain, so it can not act on that area. For this reason, for the moment there is no real therapy against the disease, which often kills before the age of two. Gaucher's study represents hope.

The researchers used a virus to carry healthy GBA copies into the brains of developing fetuses. A normal injection is enough for the virus to move from the circulatory system to the central nervous system. From here it disperses throughout the brain, arriving there where the enzyme alone fails.

The study was conducted on sick guinea pigs of a corresponding Gaucher disease. Untreated guinea pigs live for about 15 days after giving birth. Those treated, however, survived for at least 18 weeks and were able to move normally.

Source: nature.com

A team led by Dr. Susanne Pors obtained the first artificial ovaries in the laboratory. If the prototypes prove to be safe and effective, they could solve the problems of female infertility linked to these organs. In particular, they could restore fertility to those undergoing chemotherapy at a young age.

Before chemotherapy, several women freeze ovarian tissues. Once they decide to have children, they re-implant the tissues. The method is rarely used, since there is always the possibility that the tissues contain tumor cells that could reproduce. Dr. Pors's team has developed a method for developing tissues stored outside the body.

The researchers used the tissues of some women to prepare a mold that contained the ovary in the early stages of development. The aim was to stimulate the maturation of frozen follicles in the early stages. In this way it would have been possible to obtain oocytes that can be used for in vitro fertilization, without exposing patients to the risk of relapse.

In an initial phase of the study, the researchers exposed the ovarian tissues to three-day chemical treatments. In this way they eliminated any residual tumor cells, obtaining healthy follicles in the early stages of development. To make them mature, they grafted them in a favorable environment, obtained thanks to the molds mentioned above. They then transplanted the molds into 20 guinea pigs. One quarter of the follicles survived for 3 weeks in mice.

The next step will be to find a way to perform this last operation on the human being. First, however, the safety of the procedure must be proven.

Source: news-medical.net

The appearance of the first white hair is related to stress, as well as age. In some cases, traumatic events and diseases make white strands appear before time. The phenomenon has been known for years, but only affects some people and was devoid of convincing explanations. A study by the National Institutes of Health and the University of Alabama may have found the cause.

At first, the study aimed to study the genes that regulate stem cells. To make things easier, the researchers focused on melanocytes. These are the cells that control hair pigmentation. The follicle stem cells replace the old melanocytes periodically. When the process no longer works, the hair becomes white.
Usually the stem cell malfunction is linked to aging. However, researchers have discovered a genetic abnormality that causes premature aging of follicles and melanocytes. The mutation affects the Mitf protein (melanogenesis associated transcription factor), fundamental to protect the melanocytes against the immune system.

In guinea pigs with the mutated version of the gene, the immune system tended to damage the melanocytes. In case of illness, therefore, the mice became white before. This is because the action of the immune system hindered the stem cells and therefore the replacement of the melanocytes.
The discovery of the genetic anomaly linked to Mitf could also have an impact on other studies. From what emerges, in fact, there is a strong link between pigmentation and the immune system. This explains not only the early appearance of white hair, but also diseases such as vitiligo. Those suffering from it have patches of depigmented skin and an altered immune system.

Source: repubblica.it

Bioengineer Yaling Liu has developed a tool that improves current diagnostic tests for tumors. To do this, a blood sample is enough, as in the case of fetal DNA tests. The machine isolates the tumor cells in the blood and analyzes the DNA. In this way it is possible to determine the extent of the tumor, the presence of metastases and the effectiveness of the treatments.

Professor Liu's technology is the advanced version of existing tests based on the same principle. Liu's machine, however, uses a microchip that analyzes the blood cells as they pass through. This allows the number of abnormal cells present in the blood to be counted. At the same time, it allows to analyze a single cell to check if it reveals traces of metastasis.

Genetic testing is effective for assessing both the severity of a tumor and the effectiveness of a treatment. Depending on the changes that occur in the genetic expression of cancer cells, it allows to understand if the therapy is working.

Liu's apparatus is part of a clinical trial for a drug against melanoma and renal cancer. The objective of the first phase was to understand if the device could improve treatments and increase their chances of success. To this end, the professor's team analyzed a sample of blood taken from patients before treatment. The results were promising.

The next step will be to follow a group of patients throughout the treatment. The doctors will carry out the test several times, monitoring the progress of the cancer cells in the blood. The second phase should start within a few months.

Source: lehigh.edu