The ability to identify with those in front of us is a quality written in our genes. This is shown by a team of scientists from four major international institutions. The researchers who participated in the study come from the University of Cambridge, the Pasteur Institute, the Diderot University and the CNRS.

In 2002 a Cambridge team carried out a test to calculate how empathetic a person was. The questions measure the empathy quotient (EQ) of the person by evaluating cognitive and affective empathy. The first is the ability to recognize the feelings and thoughts of others; the second is the ability to respond with an appropriate emotion.

Thanks to the test it was discovered that the level of empathy changes from person to person. Furthermore, women are on average more empathetic than men. The researchers then decided to study the biological causes of these differences. The international study revealed that empathy is the result of both environmental factors and genetic factors.

The researchers tested the empathy quotient for 46,000 people. Then they also took a sample of saliva from each of them in order to analyze their DNA. Comparing the two results, it emerged that the level of empathy depends on genetic factors at least for a tenth. These minimal genetic variations could be the root for behavioral disorders.

Although women are more empathetic on average, there does not seem to be any significant genetic difference. According to the researchers, the merit could be hormonal levels, very different between the two genera.

Source: panorama.it

The campaign Vite Coraggiose of the Bambino Gesù Foundation is aimed at those who suffer from genetic diseases without a diagnosis. The scientific director Bruno Dallapiccola announced the first results of the initiative: 350 diagnoses, about 50% of patients entered the program.

Much of the credit goes to the multidisciplinary clinical approach and to the use of genetic sequencing technologies. The many tools at the disposal of the Infant Jesus also contributed. The hospital has in fact treated about 10,000 patients suffering from rare diseases, especially pediatric diseases. It also houses the Italian headquarters of Orphanet, to date the database for rare diseases par excellence. All these elements have managed to give an answer to those who have been waiting for a long-time diagnosis.

The results obtained in 2 years with Vite Coraggiose are only the last in terms of time. In recent years, the Bambino Gesù researchers have identified 17 new genes related to diseases. In addition, they identified 16 rare diseases and opened a clinic dedicated to those who are still without a diagnosis.

The clinic dedicated to patients without a diagnosis is aimed at patients throughout Italy. Families can interact with doctors for a first remote diagnostic opinion. Any movement will come later and only if necessary. A considerable help for those who have relatives suffering from disabling diseases and that prevent them from moving. If clinical analyzes do not provide an answer, we proceed with genomic analyzes.

Up to now the approach of Vite Coraggiose has allowed to obtain a diagnosis in about 50% of cases. Having an answer is a big step forward from both a psychological and a practical point of view. It allows you to get to know the disease better and to develop increasingly targeted research programs.

Source: osservatoriomalattierare.it

Sandhoff's disease is a genetic disease that causes the progressive destruction of brain and spinal cord cells. The most common and severe form appears in early childhood, between 3 and 6 months of age. Other less severe and much more rare forms occur during adolescence and adulthood.

The cause of Sandhoff is a mutation of the HEXB gene, which causes a deficit of the enzymes exosaminidase A and exosaminidase B. The two enzymes should be inside the lysosomes, the structures that deal with the disposal of toxic substances. Their malfunction then leads to a progressive accumulation of gangliosides in the brain, causing the death of neurons.

The disease causes the degeneration of brain and spinal cord cells. For this reason, those affected suffer from intellectual and motor disabilities, as well as loss of sight and hearing. Children with Sandhoff's disease have excessively developed livers, bone malformations and respiratory infections.

In order for the disease to manifest itself, both parents must be carriers of the mutated gene. Usually healthy carriers do not show any symptoms, which makes it necessary to resort to appropriate tests. Who has had cases in the family, can undergo a genetic test to check whether or not it is a carrier. In the event of a positive outcome for both partners, in vitro fertilization can be used together with pre-implant genetic tests.

Source: rarediseases.info.nih.gov