Aurora magazine

Congenital heart disease affects about 1% of newborns. Sufferers must undergo numerous operations and undergo pharmacological treatments throughout their lives. In some cases, even a heart transplant is needed. Despite the occurrence and the many efforts to get more and more severely diagnosed, for many patients the cause of the disease is still a mystery.

According to this study, the reason is that there are more genes involved. Researchers from the Gladstone Institute and the University of California have identified three genetic variants related to the disease, all hereditary. In the families in which they occur, there are multiple cases of heart disease even at a young age. It is therefore probable that the fault of the pathology is not of a single mutation, but of so many masses.

Everything starts from the study of a family with numerous cases of congenital heart disease. One of the couple's children had just survived a delicate left ventricular surgery. The spouses already had a child with a similar illness and had suffered an abortion in the first trimester. The researchers then analyzed the hearts of the two parents: the mother was healthy, while the father had a very mild version of the child's condition. From these observations, the researchers sequenced the DNA of all family members.

They discovered that the father was a carrier of two mutated genes, MKL2 and MYH7, both linked to a greater risk of heart disease. The children inherited both mutations from the father and a third from the mother, the one on the NKX2-5 gene. All three together, the mutations caused the onset of the disease.

Source: gladstone.org

Researchers from the Institute of Cancer Research in London have developed a new genetic test for women with breast cancer. The test predicts how patients will respond to therapy even before it starts. To do this, a few drops of blood are enough.

The test looks for genetic variants that make the tumor resistant to certain drugs. In this way, doctors know in advance if it is worth going ahead with a certain type of treatment. Furthermore, it is useful in cases of chronic cancer. In some cases, in fact, cancer cells become resistant to certain drugs and therefore we must change strategy. In the future, such tests could help identify almost half of women at high risk of recurrence. Doctors will see in advance if the cancer has become resistant to drugs and the therapy must be changed.

To develop the test, the researchers examined the blood samples from 310 women. All women suffered from the most common form of breast cancer, all in an advanced stage. The patients were testing two drug therapies designed for tumors of this type. About 42% of them (131 women) showed genetic variants related to the risk of relapse. On average, women with these variants had a tumor return 3.9 months after the end of therapy.

Source: medicalxpress.com

As genetic tests become more popular, the traditional approach to medicine is becoming less and less efficient. There is a growing need for multidisciplinary clinical programs that combine different types of skills. It's when the American Heart Association reports, especially about heart and brain diseases. Cardiovascular genetics has made great strides forward, making us discover the genetic causes of many diseases.

Today's major challenges are to understand these causes and create new personalized therapies. Furthermore, there is a lack of experts able to read genetic tests and give advice also to the families of sick people. According to the authors of the article, a specialized program would be needed that includes cardiologists, geneticists, consultants and chemical coordinators. In this way, those who rely on genetic testing would have an extra grip. At the moment, instead, programs focused on the relationship between genetics and cardiovascular treatments are scarce.

In addition, many of these are focused on a specific disease. One of the authors, Professor Kiran Musunuru, pushes for a genetic program that integrates clinical findings obtained with traditional techniques and those that come from genetics. This would improve diagnosis and treatment, helping patients' families as well. For the latter, programs that monitor the presence of any early symptoms of the disease would be useful.

Source: news-medical.net

Fifty-two Italian research centers joined together to develop new genetic tests against cancer. The goal is to compare standard therapies and target therapy driven by genomic proliferation. If the latter were more effective, the doors of a new precision oncology would open. New genetic tests help identify the molecular characteristics of a tumor.

Doctors can profile the tumor's DNA and, thanks to artificial intelligence, develop a therapy. In this way, each patient can have a tailor-made treatment based on their specificity and needs. A further step towards precision medicine, which however requires further studies before it can become mass. Researchers from 52 research centers are evaluating the effectiveness of this type of approach.

The study is already in phase II and will involve 1200 patients suffering from lung, breast and gastrointestinal cancer. Furthermore, it will assess the efficacy of target therapy on rare tumors, against which standard treatments are ineffective. This will last for 18-24 months. To carry out the study, doctors will use genomic proliferation tests. In this way they will be able to identify the cardiac mutation of the tumor and behave accordingly.

The therapies will therefore focus not only on the location of the tumor, but above all on its genetic code. For this purpose it will be necessary to have oncologists and medical geneticists, but also bioinformatics, molecular biologists and surgeons.

Source: repubblica.it