Aurora magazine

Breast cancer is getting easier to detect and prevent. Two BCCs (Breast Cancer Association Consortium) have discovered over 60 genetic variants that predispose to the disease.

The new variants are more widespread than the more famous ones that touch the BRCA1 and BRAC2 genes. Compared to the latter, they pose a lower risk, especially if taken individually. However, some subjects have two or more mutations combined. In this case, the chances of a tumor are high enough to justify a preventive intervention.

For the discovery, researchers have been using the DNA of over 137,000 women with breast cancer. They also analyzed the genetic heritage of 18,900 women with BRCA mutations and 119,000 healthy women.

Thanks to the study, the number of abnormalities associated with breast cancer is 167. Of these, 125 are associated with Er-negative tumors, on which hormonal therapies have no effect. All this confirms how genetic factors affect cancer predisposition. Beyond the few families with a very pronounced predisposition, there are fewer but important factors.

Along with the findings already made and current DNA testing, the study promises to facilitate early diagnosis of the tumor.

Source: ansa.it

Angelman's syndrome is a genetic disease that affects the central nervous system. It causes serious delays in development and permanent neurological damage. Children who suffer from it seem healthy at birth and the disease manifests in the 6 to 12 months.

At first, the baby suffering from Angelman's syndrome shows feeding problems and developmental delays. Between 2 and 3 years, the first epileptic seizures often occur. The child is hyperactive, with a low threshold of attention. Problems with him also in adulthood, sometimes accompanied by an abnormal curvature of the spine. Despite all these problems, Angelman sufferers have an average life expectancy.

The disease is caused by a defect in the maternal copy of the UBE3A gene. The gene contains information on a key enzyme for protein degradation. Its malfunction would be enough to cause the symptoms of the syndrome. In most cases, genetic abnormality is sporadic, but there are also cases of inheritance.

For the diagnosis, specific genetic tests are used to determine the presence or absence of chromosome abnormalities. Once the disease is confirmed, it is symptomatic. Epileptic attacks with specific drugs are monitored and physical and occupational activity is promoted. All this helps to improve the quality of life of patients.

Source: telethon.it

The genome analysis of 2,064 people revealed a number of autologous genetic abnormalities. The study suggests that the sequencing of the entire genome could one day contribute to the diagnosis.

It is now certain that autism has genetic bases. The current tests, however, are not always able to identify the anomalies that are the cause. The study identified new genetic patterns that could help in the absence of other genetic markers. If they were confirmed, they could become a guide to early diagnosis of the disorder.

The complete sequencing of the human genome is becoming easier and cheaper. So much so that, according to the author of the study Evan Eichler, within 10 years it could become the best diagnostic tool for autism.

Current genetic tests focus only on genome areas already linked to autism. Other tests are looking for anomalies in well-defined genes. However, based on family histories, inheritance plays a decisive role only in 50% of cases. Consequently, the approach covers only 10-30% of cases.

The researchers sequenced the genome of 516 autistic children. Children did not have family history autism stories and none of the abnormalities normally detected by the tests. Scientists also sequenced the genome of parents and children's brothers, for a total of 2,064 people.

The team identified abnormalities that have destroyed some genetic functions and altered protein production. They also found modifications in areas of the genome without genes but responsible for the activation of some important genes.

Comparing the number of genetic variations in autistic children and brothers, it was found that the former had often three or more types of anomalies. This suggests that the combination of several sporadic variations could contribute to autism. However, further studies will be needed.

Source: hhmi.org

An experimental treatment helped a child with adrenoleucodistrophy, a rare genetic disorder affecting the nervous system. The disease was also at the center of a famous movie, "Lorenzo's Oil", based on a true story.

Unfortunately, Lorenzo's oil is not a real cure for the disease. The only treatment currently available is a brother's stem cell transplant, only possible for 1 out of 5. The new treatment, on the other hand, allows the patient's own cells to be used. Doctors take a marrow sample and modify stem cells by replacing the diseased gene with a healthy one. Then they implant the cells again.

The study led by Dr. David A. Williams involved 17 children between the ages of 4 and 13. Patients were affected by the worst form of adrenoleucodistrophy, which also affects the brain. Two years after treatment, 15 of them were neurologically stable and lacking major disabilities. Two others were dead, one for worsening of the disease, the other for complications following a transplant.

According to the results, treatment could be as effective as stem cell transplantation. With the difference that the latter is not available for all patients. However, it is unknown how long the benefits are and what the costs might be. However, in order for the treatment to be approved by the Food and Drug Administration, 15 years of monitoring will be required. Only after all will it be possible to tell if we are facing a cure.

Source: phillytrib.com