Land rare diseases in Italy they affect approximately 2 million people. According to the network Orphanet Italy, in 70% of cases these are pediatric patients. On the occasion of Rare Disease Day which also occurs on a “rare” day, February 29th, let’s try to clarify and learn about the new disease genes identified in 2023.
Rare diseases: what they are and how many there are
According to theEuropean Commissionwe speak of a “rare” disease when its prevalence, understood as the number of cases present on a given population, does not exceed a set threshold. In the European Union the threshold is set at 0.05 percent of the population, no more than 1 case per 2000 people. To date, the number of these diseases known and diagnosed is around 10,000but it is a figure that grows as science advances and advances in genetic research. We are therefore talking about quite a few sick people, around 30 million in Europe.
Diagnosis and disease genes
They were 18 new disease genes identified in 2023 by the Hospital Baby Jesus And more than 18,000 children and adolescents followed and inserted into the Lazio regional network of rare diseases. And this is thanks to technological revolution which hit the genetic and genomic analyses and the work carried out by the Translational Cytogenomics and Molecular Genetics and Functional Genomics research units of the Hospital.
The progress of science
«This is one of the most significant contributions that genetic research is able to offer, which it puts an end to the wanderings of many rare disease patients and their families, and it is the first step in taking charge. We can hypothesize, with a view to obtaining earlier diagnoses and therapies, that neonatal genomic screening programs will be launched in the near future, in order to anticipate and make the global management of patients more effective, also through advances in precision medicine which aims to counteract the effects of genomic mutations. These are realistic goals, given that our genome is a sort of medical record in which a significant part of our biological future is written, in terms of health and disease”, explains the Professor Bruno Dallapiccolascientific director emeritus of Bambino Gesù.
Patients without diagnosis
According to National Institutes of Healththe percentage of patients without diagnosis in the general population of rare disease patients it is equal to 6%. In Italyout of approximately 2 million people affected by these diseases, i rare patients without diagnosis would be over 100,000. To provide concrete answers, closer to the patients and their families, in a uniform manner throughout the territory, there is the National plan for rare diseases 2023-2026, financed with 50 million euros from the National Health Fund. Its main lines of intervention concern: Primary Prevention, Diagnosis, Care pathways, Pharmacological treatments, Non-pharmacological treatments, Research, Training, Information, Registries and monitoring of the National Rare Diseases Network. Today I am included in the LEAs (Essential Levels of Assistance) 921 rare groups/diseases.
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