In Italy, almost 2 million people suffer from one of the approximately 7-8 thousand known rare diseases, according to data from the Orphanet Italia network, and every year there are around 19 thousand new diagnoses. Of these 2 million patients, “rare” but certainly not a few overall, about 70% are children. What saves and improves the quality of life is often a timely diagnosis, which in many cases is still late in arriving, for practical and economic reasons. In this regard, the Just Italia Foundation supports an assistance project in 2022, called “Tomorrow in my dreams”. The project provides for the donation of 200 thousand euros, as a minimum guaranteed amount, to the Federation of Rare Infantile Diseases. The fund will be used to make innovative diagnoses based on genetic investigations with the “next generation sequencing”, Next Generation Sequencing (NGS).
Rare diseases, the first Tay-Sachs patients treated with gene therapy
by Anna Lisa Bonfranceschi
NGS: multiple genes at once
In some rare diseases a diagnostic delay, even of a few months, can be decisive for the duration of survival and for the quality of life of the child. Time, as we know, is a key element for a better management of these pathologies. New NGS tests are increasingly important in diagnosing complex and heterogeneous rare diseases. The underlying technology makes it possible to examine several genes at the same time, even in more than one patient at the same time, with greater speed and cost savings for the healthcare system. While the more traditional techniques, which remain valid and widely used, allow to analyze one gene at a time. Currently, investigations with the new sequencing are not covered by the National Health Service and, as the costs are high, are inaccessible for many families.
Genetic diseases, a genome-based newborn screening project is underway
by Tiziana Moriconi
Support 60 children
Precisely for this reason, the Just Italia Foundation, created by the cosmetic company of the same name, has decided to contribute to guaranteeing a diagnosis and treatment as fast and precise as possible. The project provides for the insertion of 60 children, reported by the Federation of Rare Infantile Diseases, within targeted diagnostic and therapeutic paths, in various hospital centers. Multidisciplinary teams will welcome and follow the children and their families, from diagnosis to therapy, for a period of 2 years. In addition, the Foundation promotes a fundraiser to raise awareness of the problem and raise awareness among consumers, with the sale of a “solidarity” set of Just cosmetic products. For each set sold, containing 3 creams at a cost of 24 euros, the company will donate 2 euros to the project dedicated to children with rare diseases.
Rare diseases, Aifa approves new therapy for paroxysmal nocturnal hemoglobinuria
by Irma D’Aria
