only 6 out of 100 patients have a cure. Mutations are the key to intervening with precision medicine – breaking latest news

Since the entire human genome was mapped in 2000, we have begun to know which of the approximately 23,000 genes that make up our Dna they are involved in various diseases. It was a crucial step for rare diseases because about 80% have a genetic basis or caused by a DNA mutation – underlines Bruno Dallapiccola, scientific director of the Bambino Ges Pediatric Hospital in Rome -. In the last 20 years we have developed increasingly sophisticated technologies that have helped us on two fronts: on the one hand, to improve our diagnostic skills, allowing us to give a name to the disease from which the patient suffers; on the other hand, to develop treatments where they often did not exist thanks to the arrival of precision medicine with the so-called target therapies.

The role of research and genetics

The researchers aim to identify the genetic mutations that play a key role in the development and growth of a specific pathology, understand how they influence its progress and find drugs that aim to undermine the mechanisms of action, slow down the evolution of the disease or stop it altogether, maybe even prevent it. We are also learning that 30% of the genes known today can be linked to different diseases and that there are less marked boundaries than we thought between some groups of diseases that have a common biological basis, for which we hope to be able to exploit the same therapies, emphasizes Dallapiccola. When healing is not possible, the aim is to offer the patient the best possible existence. And, thanks to the most recent advances, at least in some rare diseases the ambitious goal of a normal life has been achieved.

Only 6% have a cure

Unfortunately for only 6% of people with a rare disease there is a cure and to make matters worse there is the fact that rare diseases have a chronic and often disabling trend because they tend to worsen over time. For this reason it is necessary to integrate health and social assistance – highlights Annalisa Scopinaro, president of WE COMBINE -: people living with a rare disease and their families often face heavy social and economic costs. So much so that 8 out of 10 have difficulty managing the ordinary aspects of daily life. Italy at the forefront in the development of genomics – concludes Dallapiccola -, but we are behind in data collection. Funds are needed for scientific research and investments in machinery, but also for bioinformatics technicians specialized in processing increasingly complex information. It is important to centralize human and technological resources in a few large qualified centers, in order to bring together and make the most of the different skills, without dispersion.