There were 18 new disease genes identified in 2023 by the Bambino Gesù Hospital and more than 18 thousand children and adolescents followed and included within the Lazio regional network of rare diseases, in which more than 62 thousand subjects with rare diseases are registered, of these, 26% belong to the pediatric age group.
These are the first data released by the hospital, in view of the world day on February 29th, with the aim of giving a diagnostic answer to numerous families waiting for a classification.
"This is one of the most significant contributions that genetic research is able to offer - explains Bruno Dallapiccola, scientific director emeritus of Bambino Gesù - which puts an end to the wanderings of many rare disease patients and their families, and is the first step in the 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 medical advances. of precision that aims to counteract the effects of genomic mutations".
According to the National Institutes of Health (NIH), the percentage of undiagnosed patients in the general population of rare disease patients is 6%.
In Italy, out of approximately 2 million people affected by rare diseases, there are over 100 thousand rare patients without a diagnosis.
Genetic and genomic research will be discussed in the round table organized on 21 February by the Bambino Gesù Pediatric Hospital, Orphanet-Italia and OMaR - Rare Diseases Observatory, to evaluate the impact on the understanding, diagnosis and treatment of rare diseases.
Particular attention will be paid to early diagnosis based on non-invasive prenatal screening and neonatal screening including genomic screening - on innovative therapies and their sustainability.
The online meeting "Genomic Research and Rare Diseases - From the laboratory to the patient" will take place from 10 am to 12 pm and it will be possible to follow it online via Zoom or Facebook.
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