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background-color: #fff; border-radius: 0.5rem; box-shadow: 0 12px 24px rgba(0, 0, 0, 0.12); font-family: sans-serif; content: 'Loading...'; display: flex !important; font-size: 13px; font-weight: bold; line-height: 1; justify-content: center; min-height: 50px; text-transform: uppercase;}#speakup-player:empty{ display: block;} Il 29 febbraio è la giornata delle malattie rare. Secondo i dati dall’Osservatorio delle malattie rare del ministero della Salute, in Italia ci sono circa 2 milioni di malati, di cui il 70% bambini, in parte destinati a morire prima dei 5 anni. In Europa il fenomeno riguarda circa 30 milioni di malati; tra famigliari e care givers sono coinvolti oltre 80 milioni di cittadini europei. La mappatura del genoma umano consente oggi di intervenire attraverso un esame di coppia per escludere la nascita di bambini malati con un semplice prelievo di sangue su cui si esegue l’esame del Dna. Una lettera aperta al ministro Schillaci di una mamma medico ◆ Lettera aperta di LUCIA GIULIA PIAZZA► Gentile signor ministro della Salute, professor Orazio Schillaci, in occasione della giornata mondiale delle malattie rare, mi permetto di ricordarle alcuni numeri. Dai dati dall’Osservatorio delle malattie rare del ministero della Salute, risulta che in Italia ci sono circa 2 milioni di malati, di cui il 70% bambini, in parte destinati a morire prima dei 5 anni. Ogni anno si aggiungono 19.000 casi, denunciati dalle Asl. Sono cifre imponenti: ogni 30 persone che incontriamo, una ha una malattia genetica. Il problema ci riguarda da vicino. In Europa il fenomeno non è diverso: circa 30 milioni di malati, che con le loro famiglie si moltiplicano: sarebbe auspicabile una politica comunitaria. Oltre 80 milioni di cittadini europei fra malati, famigliari e care givers sono in cerca di una rappresentanza politica che dia voce alle loro istanze.  Considerando l’astensionismo, soprattutto in Italia, sono numeri con cui si può ottenere molta visibilità. Finanziare ricerche, dare origine a comitati, commissioni, associazioni, organizzare congressi, gratifica e fa sentire migliori, ma il numero d́i malati non tende a diminuire; le terapie sono adatte a piccoli gruppi di pazienti, le case farmaceutiche si disinteressano del problema. Con il progresso della genetica, sembrerebbe giunto il momento di unire tutte le forze, e dedicare denaro, tempo e uomini ad un’unica ricerca che possa portare sollievo a tutte le malattie di origine genetica. Per questo scopo si dovrebbero unificare le risorse: ma questo progetto, al momento, non trova l’approvazione di nessuno.Sarebbe opportuno, e in accordo con gli indirizzi della scienza, provvedere alla prevenzione della nascita dei bambini portatori di alterazioni genetiche che daranno origine a malattie. Non si tratta di un’utopia: il genoma umano è stato da poco completato con un progetto di ricerca durato oltre 20 anni: già nel 2003, un ricercatore del progetto genoma, Venter, proclamava che nel giro di due anni le malattie genetiche sarebbero scomparse. Non si è fatto quasi niente per realizzare il suo sogno. E soprattutto la popolazione non è informata della possibilità di fare un esame di coppia per escludere la nascita di bambini malati.Esistono laboratori in Italia che fanno questo tipo di esame che consiste in un semplice prelievo di sangue su cui si esegue l’esame del Dna. Si vedranno i geni malati (ognuno di noi è portatore di almeno 4 geni difettosi) e se gli stessi geni sono presenti nella coppia, si prenderanno gli opportuni provvedimenti per far nascere un bambino sano. Non si deve ricorrere all’aborto, ma a una inseminazione medicalmente assistita. L’esame ha un’affidabilità del 95% e può arrivare a coprire il 98% delle  malattie note (circa 8000). Non si devono fare ricerche lunghe e costose, ma semplicemente occorre organizzarsi.Le ricordo infine, gentile professor Schillaci, che il piano triennale per le malattie genetiche del 10 luglio 2023, di cui non sono stati ancora preparati i decreti attuativi, prevede al primo punto la prevenzione primaria. Le chiedo perciò di adoperarsi affinché nel più breve tempo possibile tutti gli italiani siano informati riguardo a questo esame: con la collaborazione di tutti i mezzi di comunicazione e di tutto il personale sanitario, dell’istruzione, e dell’informazione, anche della Chiesa.Distinti saluti. di Italia Libera   29-02-2024 - 06:57 Link copiato Commenti Leggi la Netiquette

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