Aurora magazine

During the annual conference of the European Society of Medical Oncology (ESMO), a new therapeutic approach to cancer was discussed. In the near future, genetic mutations may be more important than the organs affected by the disease. In fact, studies on "agnostic" drugs are being expanded, designed to target a certain genetic anomaly rather than a certain type of tumor.

A single genetic mutation can cause different types of cancer. Just think of the BRCA genes, responsible for both breast and ovarian cancer. The agnostic drugs act precisely on the basis of these genetic mutations, regardless of which organ is involved. If they spread, they will radically change the way we approach cancer treatments.

In September 2019, the European Commission approved one of the first agnostic drugs. It is called Larotrectinib and acts against mutations in the gene that codes for the neurotrophic tyrosine kinase receptor (NTRK). It has proved effective especially in the most advanced cases, in which there are metastases and it cannot be operated. The drug is taken in tablets, has few side effects and has given results against 29 types of cancer.

There are other agnostic drugs being approved or already approved. They are all designed to act in the presence of a specific mutation, regardless of the organ concerned. In this way the therapy is more personalized, however counterintuitive it may seem. Furthermore, it is also possible to act against rare tumors for which there are no specific therapies.

Source: corriere.it

Melanoma is the most dangerous skin cancer and affects mostly people under 50. Until a few years ago, an advanced stage melanoma was a death sentence. Today things are changing, thanks to new drugs and genetic tests. When melanoma reaches stage III or even IV, possible therapies are reduced. In recent years, however, new treatments are being born based on the genetic profile of the tumor.

The identification of any genetic mutations can help identify the causes of cell proliferation. In this way it becomes easier to control and maybe stop the process, slowing down the development of the tumor. The most known gene cause of melanoma is BRAF: half of the melanomas have mutations within it. Once identified, it is therefore possible to develop an approach that is as "tailor-made" as possible for the patient. For example, an innovative treatment involves the use of a BRAF inhibitor combined with a MEK protein inhibitor. Once injected, the two inhibitors identify the mutated BRAF protein and stop it.

The tumor stops and the patient has a longer life expectancy. The aforementioned treatment has so far proved effective on tumors at all stages. In the early stages of melanoma, it appears to reduce the risk of recurrence. It therefore becomes increasingly important to perform specific genetic tests in the very early stages, so as to intervene immediately in the best way.

Source: corriere.it

Hypercholesterolemia is a genetic disorder that remains largely undiagnosed. This causes alarming increases in cholesterol levels, which can result in heart attacks and strokes. It is estimated to be the most common fatal genetic disorder in First World countries. In fact, only one in Europe suffers one person every 250/200.

People suffering from hypercholesterolemia have high levels of "bad" cholesterol or LDL, caused by a mutation in the genes that remove it from the body. Cholesterol therefore continues to accumulate, until it forms large plates and blocks the walls of the arteries.

The children of those suffering from this condition have a 50% chance of suffering in turn. High levels of LDL cholesterol since birth increase the risk of heart attacks by 10-13 times. The family history and blood tests are then used to identify the disorder. For more precise and early results, however, genetic tests may also be useful. In this way the patient suffering from hypercholesterolemia can fight the condition with drugs and a healthy lifestyle.

Genetic testing can also be useful for those who have just had a heart attack. Systematic screening can identify those suffering from this condition, reducing the risk of a second attack. In addition, it can also be helpful for any children and grandchildren, who can check in time if they are also at risk.

Source: escardio.org

Scientists at the University of Edinburgh have created a genetically modified sheep. The animal will be used to study Batten's disease, a lethal genetic disease with a diagnosis of a few years. Scientists will use the guinea pig to test new possible treatments for the disease.

The most widespread animal models are rats and mice. A larger mammal was needed to recreate the complexity of a child's brain. For this reason, scientists decided to reproduce the conditions of the disease in a sheep, an animal with a brain relatively similar to the human one. In particular, they reproduced the conditions of Batten disease caused by variants in the CLN1 gene. Batten's disease causes vision loss, motor and cognitive problems. All these symptoms result in convulsions and inevitably lead to the doors. There are different types and the quickest is the one caused by the CLN1 gene.

Scientists used Crispr-Cas9 to introduce the genetic abnormality in sheep embryos. From this first phase three animals were born. The guinea pigs soon began to show symptoms similar to those of human children. This is a crucial detail, because it determines the actual reliability of the models. Thanks to these observations, it was possible to better understand the development of the disease, starting from the earliest symptoms. Starting from animal observations, scientists are developing a series of possible treatments. Among these is gene therapy, or the introduction of a healthy version of the gene using a virus.

Source: theguardian.com