(ANSA) – TRIESTE, MAY 07 – An appeal for newborn screenings to include, at national level by law, some degenerative diseases such as Sma, spinal muscular atrophy, was launched by immunologist Alessandro Aiuti and scientific communicator Annamaria Zaccheddu.
Speaking on the sidelines of the presentation of their book “The unexpected cure” (Mondadori) in the context of the scientific review underway in Trieste “Scienze e virgola”, Aiuti and Zaccheddu specified that “today this type of examination is carried out only in some regions but not in all of them, causing an imbalance” in the healthcare offer whereby “if a child is born in a certain place” he can know if he risks falling ill with a certain pathology, “if in another place, in the same country, no”.
To hinder the passing of a law in this area, “there are only bureaucratic problems” and not scientific since “the confirmations on the validity of valid tests are there, specified Aiuti, deputy director of the San Raffaele-Telethon Institute for gene therapy of Milan and director of the Pediatric Immunohaematology Unit at the IRCCS San Raffaele Hospital in Milan, son of the well-known immunologist Fernando, and Zaccheddu, of the Telethon Foundation.
In 2016, law 164 was promulgated, which extended prenatal screening for 40 metabolic diseases to all of Italy, thus bridging a gap between the regions similar to the one in place today for some degenerative diseases.
But “we need to hurry”. For Sma, for example, “there is a gene therapy but also a pharmacological one. The sooner we intervene the better: they are degenerative diseases, with a late diagnosis, the effect of the drugs is reduced, then from a certain moment on they no longer have effect”. (HANDLE).
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