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

In Switzerland, all newborns receive prenatal screening for phenylketonuclear syndrome or PKU. It is a genetic disease that affects the metabolism, caused by a malfunction of the enzyme phenylalanine hydroxylase. The team of Professor Gerald Schwank used CRISPR / Cas9 for the first time to correct mutated genes. For the time being the procedure has been applied only to animal models and has been completely successful.

PKU causes the progressive accumulation of phenylalanine in tissues, damaging neurons and causing mental retardation. Researchers used genetic editing to transfer the correct genetic code into liver cells. Thanks to the procedure, they modified about 60% of the abnormal copies of the gene and stimulated the production of the missing enzyme first. As a result, phenylalanine dropped to normal levels and most of the symptoms disappeared.

The procedure used is slightly different from the traditional one and is also much more efficient. The attempts made with the traditional version of CRISPR have indeed failed. The procedures had been able to correct only low percentages of cells. As a result, the effects on the guinea pigs had been very mild.

For the study in question, the scientists used adeno-associated viruses to carry the correct DNA. They injected them into the blood of guinea pigs, in order to infect the liver cells and introduce the new genes. This same method could also be useful in other metabolic diseases, even if it is still to be explored. According to Professor Gerald Schwank, the possible risks are reduced. Before moving on to human experimentation, it will still be necessary to switch from other animal models.

Source: ethz.ch/

Researchers at Michigan State University College of Human Medicine have identified a new genetic disease in a human patient. The disease had already been described in animal models, but the doctors had not yet found a counterpart in our species.

The disease is caused by some mutations in the ODC1 gene and causes:

• high birth weight;
• big head;
• hair loss;
• reduced muscle mass;
• skin lesions;
• hearing loss;
• delays in behavioral development.

In the long run, the disorder has consequences on the neurological system that are not entirely clear. The researchers are still examining them.

The finding is relevant because the genetic disease had been detected in mice 20 years ago. The gene involved plays an important role in a large number of physiological processes and also in embryonic development. According to the researchers, there may already be an effective drug against this disease. The DFMO inhibitor, an already approved drug, could at least act against some of the main symptoms. Soon a clinical trial will start to test it.

The DFMO drug has been used for years in treating trypanosomiasis, tropical diseases transmitted by insects. In addition, doctors are testing it for the treatment of pediatric neuroblastoma and colon cancer. In mice he stopped hair loss and made them partially regrow.

The first patient of the nameless disease is a three-year-old girl. The doctors examined the blood samples taken at 11, 19 and 32 months. They compared them with those of two children of the same age and of the same kind in health.

Source: medicalxpress.com