In the future, will it be possible to correct a genetic error directly in the body? Maybe yes. The scientists at the Oakland Benioff Hospital have applied gene therapy to a man with Hunter's disease. If all goes well, the body will incorporate the correct version of the defective gene, hence a regression of the disease.

In standard gene therapy, offensive viruses are used to replace diseased genes with their correct versions. Usually, scientists apply the procedure on a cell culture of the patient, to be re-planted at a later time. In this case, instead, they used genetic editing directly in the patient's body.

Scientists have operated a man suffering from a disease called mucopolysacaridosis type 2, or Hunter's disease. Those who suffer from it accumulate sugars in the organelles of the cells, all because of a chronic scarcity of the enzyme Ids. In the long term, the accumulations of sugar cause problems of sight, hearing, heart. To date, the only available treatment is weekly enzyme infusion, but gene therapy may make it unnecessary.

Phases 1 and 2 of the experiment are intended to verify the safety of the treatment. Only at this point will you go to Stage 3, which will serve to verify its effectiveness. For this purpose, researchers have already recruited 9 other patients with the disease who will undergo short-term surgery. In addition, similar experiments are ongoing for type B hemophilia and type 1 mucopolysaccharides, or Hurler-Scheie syndrome. The criterion used is always the same.

Source: ansa.it

Professor Jonathan Schisler's team has discovered the possible causes of coronary heart disease. This opens the doors to the creation of new diagnostic tools for those who have family cases. In the future, perhaps, this might even lead to the creation of ad hoc prenatal tests.

According to the study, subjects with clean arteries exhibit higher levels of CXCL5 protein. It seems that this acts as a protective agent against coronary heart disease. This suggests that there is a genetic predisposition to the underlying problem and that acting on CXCL5 levels could prevent it.

The researchers analyzed blood samples and ultrasounds of 143 people over 65 years of age. All those involved were at the UNC Medical Center for cardiovascular screening. The analyzes revealed that people with clean arteries had genetic variants near the coding gene CXCL5.

Previous studies had linked the CXCL5 protein to inflammation, which had led researchers to consider it dangerous. Recent research suggests instead that it helps to limit fatty and cholesterol sores in the arteries. Schisler's study tests for the first time its protective role against coronary heart disease.

The search has a limit: it did not involve healthy subjects acting as a control group. Nonetheless, if the discovery was proven it would have an invaluable tool for early diagnosis of the disease. With time, you might even think of genetic testing for those who have family cases.

Source: news.unchealthcare.org

Bullous epidermolysis is a rare genetic disorder also called "butterfly syndrome". The skin of those who suffers it is as fragile as the wings of a butterfly. Just a minor clutch to cause the appearance of bubbles and injuries.

The disease has three forms, ranging from the mild to the lethal:

• simplex;
• dystrophic;
• junctional.

In the case of joint juncture, the disease also affects the mouth and throat. This makes it difficult to eat and swallow. In some cases, the disease also affects internal mucous membranes and causes almost unbearable pain. Often injuries are also difficult to heal.

The disease usually occurs at birth or in the next few months. Localized shapes can, however, emerge even in late childhood or early adulthood. In Italy, bullous epidermolysis affects about 1 child every 82,000 births. The average is lower than the world average, which is around 1 child per 17,000 births. The total number of people in the world is about 500,000.

Bullous epidermolysis is inherited and can be autosomal dominant or recessive, depending on the subtype. If you are present in the family history of one of the couple's two members, you should contact specialists. In the case of recessive inheritance, in fact, both parents are healthy carriers and do not manifest the illness in any way. Nevertheless, the fetus has 1 out of 4 possibilities to manifest it.

The simplex form is the least serious and most common. It affects about 50% of affected subjects and affects almost exclusively hands and feet. In some cases, continuous scarring results in fusion of the fingers, reducing its functionality. It is common for patients to suffer from anemia, or who incur tumors and nephrologic problems. Junctional bumpy epidermolysis is the rarest (1% of cases) and is also the most severe. In many cases it is lethal since childhood.

Compared with other genetic diseases, bullous epidermolysis is easy to diagnose. There are no effective treatments, though. You can only avoid the appearance of bubbles as much as possible, protecting the skin from possible trauma. It is also important to prevent possible infections from wounds. Those who suffer from the most serious forms must undergo continuous monitoring, but there is nothing else to do.

Source: observatoriomalattierare.it