Hutchinson-Gilford syndrome or progeria is a fatal genetic disease that causes premature aging. A team led by Dr. Leslie B. Gordon identified a marker protein that could help you choose the best treatments.

Progeria affects about 1 child for every 8 million. Those who suffer seem healthy at birth, but show problems in development within the first year of age. In a previous study, Dr. Gordon's team had tested the effects of the lonafarnib protein, usually used against cancer. Used for 2 years, she helped patients gain weight, reduced the risk of heart attack and the typical headaches of the disease.

Despite the good results of the study, a problem persisted. There were no biomarkers that indicated the effectiveness of the treatment and any problems before they appeared. For this reason, the researchers looked for a marker protein for Hutchinson-Gilford. In this way it would be easier to measure patient progress and understand if there were any changes to be made.

The researchers started from the blood samples of 24 patients between 3 and 12 years. At the time of the study they represented about 10% of the subjects affected by the disease. The samples were taken before and after treatment with lonafarnib and compared with those of some healthy children. Scientists used a tool called RBM HumanMAP to measure levels of about 90 proteins.

The results showed profound different between healthy and sick children in more than 40% of the proteins. All of these could be biomarkers for the disease, to be used for studies and treatments. A big step forward in the fight against this still fatal disease, which could also help in the fight against more common diseases.

Source: springer.com

Researchers at the Huntsman Cancer Institute (HCI) have developed a new way to interpret genetic test results. The merit is also from Bayer's Theorem, a mathematical equation dating back to 1763. The researchers used it as a basis for developing the new evaluation method.

Genetic tests are used in a wide range of areas. They range from fetal DNA tests for prenatal diagnosis to cancer treatments. Test results can help to get more precise diagnoses and develop tailor-made treatments for the individual patient. Depending on what a genetic test says, treatment for the same disease can change significantly.

One of today's big challenges is to understand which genetic variations count and which can be ignored. Over the years, in fact, thousands of VUS have accumulated, or genetic variations whose meaning is unclear. Most of these are almost certainly harmless, but many others could be decisive for the development of a disease.

In order to reduce the subjectivity of certain interpretations, the team developed an algorithm that analyzes the results of genetic tests. The tool serves to determine the risk rate that a patient develops a certain disease. To test its effectiveness, they tested it according to 18 rules recommended by the American College of Genetics and Genomics (ACMG). The results were positive and the new tool proved that it could make the diagnosis more precise.

Source: utah.edu

In some people, epilepsy and depression share the same genetic cause. The researchers at Rutgers University-New Brunswick and Columbia University say so. The discovery could help improve treatments, raising patients' quality of life.

Scientists have studied dozens of families with people with epilepsy. In particular, they analyzed the rate of mood disorders and compared it with the average in the United States. They found that people with focal epilepsy are more prone to these diseases. Among those who suffer from generalized epilepsy, however, the rate of depression remains the same.

The lead author of the study, Gary A. Heiman, denounces the tendency to underestimate mood disorders among epileptics. Research, on the other hand, proves the need for more accurate controls, especially among those suffering from focal epilepsy. These people should receive ad hoc treatments for both epilepsy and depression.

It is likely that there is a genetic link between focal epilepsy and depression. The results of this study support the thesis, but they are not the only ones. It is from the days of Hippocrates that doctors take note of a greater propensity to "melancholy" among those suffering from epilepsy. Nevertheless, it is still unclear what genes are involved in both diseases.

Source: rutgers.edu