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Malattie rare: Sintomi, diagnosi, terapie, nuove scoperte

Malattie rare: Sintomi, diagnosi, terapie, nuove scoperte

          
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About the Book

Questo libro fornisce un'introduzione completa e dettagliata al mondo delle malattie rare, iniziando con una spiegazione di ciò che costituisce le malattie rare, seguita da una discussione della loro classificazione, del ruolo centrale della genetica e della varietà di mutazioni e disturbi genetici che possono portare a malattie rare. Il testo sottolinea l'importanza della ricerca genetica per la diagnosi e il trattamento di queste malattie, con particolare attenzione alle tecniche avanzate come il sequenziamento dell'intero genoma (WGS) e il sequenziamento dell'intero esoma (WES), nonché agli approcci terapeutici mirati che offrono speranza agli individui affetti e alle loro famiglie.
Più di 50 malattie rare specifiche sono descritte in dettaglio, tra cui la fibrosi cistica, la distrofia muscolare di Duchenne, le sindromi di Ehlers-Danlos e molte altre, con le moderne opzioni di diagnosi e trattamento delineate per ogni caso.
Particolare enfasi è posta sullo stato attuale della ricerca e dello sviluppo di nuove terapie, tra cui il sequenziamento del genoma, la terapia genica, le biotecnologie, le terapie basate sull'RNA, la CRISPR/Cas9 e l'editing genico, la terapia con cellule staminali, le piccole molecole e i farmaci mirati. Il libro tratta anche il ruolo dell'intelligenza artificiale e dell'apprendimento automatico nell'identificazione di nuovi bersagli e nella previsione dell'efficacia delle terapie.
Il libro si conclude con uno sguardo alla convivenza con una malattia rara, compreso l'impatto sulla famiglia, l'istruzione e la carriera, nonché le strategie per affrontare la vita quotidiana. Il libro affronta l'importanza delle cure palliative, la qualità della vita, le reti di supporto e i gruppi di auto-aiuto, e come affrontare l'isolamento e la stigmatizzazione. Infine, vengono discusse le iniziative legali e politiche sulle malattie rare, nonché la sicurezza sociale e il sostegno finanziario.


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Product Details
  • ISBN-13: 9783689042493
  • Publisher: Amazon Digital Services LLC - Kdp
  • Publisher Imprint: Bremen University Press
  • Height: 216 mm
  • No of Pages: 188
  • Spine Width: 11 mm
  • Weight: 245 gr
  • ISBN-10: 3689042496
  • Publisher Date: 02 Mar 2024
  • Binding: Paperback
  • Language: Italian
  • Returnable: N
  • Sub Title: Sintomi, diagnosi, terapie, nuove scoperte
  • Width: 140 mm


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