Aurora magazine

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

A team of Canadian researchers has developed a genetic test to identify fetal alcohol syndrome. The test uses DNA methylation and serves to facilitate diagnosis in the absence of obvious symptoms. In some cases, in fact, the child does not show any physical sign of disorder while suffering from it.

Fetal alcohol syndrome is linked to alcohol consumption during pregnancy. Causes physical alterations, behavioral problems and cognitive deficits. Many affected individuals show obvious malformations and problems in the central nervous system. In the presence of these symptoms, the sad diagnosis is early and almost obvious. Nevertheless, it is much more difficult to identify the disorder in those who show behavioral symptoms without physical malformations.

An early diagnosis of fetal alcohol syndrome is essential to ensure effective treatment. Unfortunately, consumption of alcohol during pregnancy is often underestimated. In case of doubtful diagnosis, therefore, interviewing the mother is only partially useful. For this reason, a Canadian team used DNA analysis to facilitate the diagnosis of the disorder.

The researchers analyzed the DNA of 48 individuals, 24 affected by the syndrome and 24 no. Patients were between 3 and 18 years. They focused on epigenetic changes, which affect DNA methylation. They identified a series of changes related to prenatal alcohol exposure and related to fetal alcohol syndrome.

The results of the study will allow to use epigenetic biomarkers to diagnose fetal alcohol syndrome. In this way it will be easier to guarantee an effective and early treatment for those who suffer from it.

Source: medicalnewsbulletin.com

Many causes of genetic pressure are related to nutrition and lifestyle. Smoking, eating unbalanced and leading a sedentary lifestyle increase the risk of hypertension. A study published in the American Journal of Human Genetics also reveals some genetic causes.

The researchers conducted the study on over 600 thousand smokers from Asia, Europe, Africa and South America. They collected data on diastolic and systolic blood pressure, the number of cigarettes smoked and genetic markers. They have thus identified some genes already linked to hypertension and others previously unknown.

Among the genetic causes of high blood pressure there is a variation in the genes that control the formation of cellular cilia. These tiny extensions are used to eliminate harsh substances in the lungs, nose and ears. When they work the wrong way, kidney disease and hypertension can occur.

There are many other genetic variants related to high blood pressure. Some of these are related to telomere length, while others involve relevant genes in diabetes and obesity. Among the identified genes, there are also those associated with nicotine and alcohol dependence. All this shows how high blood pressure is a complex phenomenon linked to many biological factors. It is also for this reason that some drugs work on patients and not on others.

Source: healthdesk.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