Rzadkie choroby
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Rzadkie choroby

Rzadkie choroby


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About the Book

Książka ta stanowi kompleksowe i szczególowe wprowadzenie do świata chorób rzadkich, rozpoczynając od wyjaśnienia, czym są choroby rzadkie, a następnie omówienia ich klasyfikacji, kluczowej roli genetyki oraz różnorodności mutacji i zaburzeń genetycznych, które mogą prowadzic do chorób rzadkich. Podkreśla znaczenie badań genetycznych dla diagnozowania i leczenia tych chorób, ze szczególnym uwzględnieniem zaawansowanych technik, takich jak sekwencjonowanie calego genomu (WGS) i sekwencjonowanie calego egzomu (WES), a także ukierunkowane podejścia terapeutyczne, które dają nadzieję dotkniętym chorobą osobom i ich rodzinom.
Szczególowo opisano ponad 50 konkretnych chorób rzadkich, w tym mukowiscydozę, dystrofię mięśniową Duchenne'a, zespoly Ehlersa-Danlosa i wiele innych, z nowoczesną diagnostyką i opcjami leczenia opisanymi w każdym przypadku.
Szczególny nacisk polożono na obecny stan badań i rozwój nowych terapii, w tym sekwencjonowanie genomu, terapię genową, biotechnologię, terapie oparte na RNA, CRISPR/Cas9 i edycję genów, terapię komórkami macierzystymi oraz male cząsteczki i leki celowane. Książka obejmuje również rolę sztucznej inteligencji i uczenia maszynowego w identyfikowaniu nowych celów i przewidywaniu skuteczności terapii.
Książka kończy się spojrzeniem na życie z rzadką chorobą, w tym na wplyw na rodzinę, edukację i karierę, a także strategie radzenia sobie z codziennym życiem. Omówiono znaczenie opieki paliatywnej, jakości życia, sieci wsparcia i grup samopomocy oraz sposoby radzenia sobie z izolacją i stygmatyzacją. Na koniec omówiono inicjatywy prawne i polityczne dotyczące rzadkich chorób, a także zabezpieczenia spolecznego i wsparcia finansowego.


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Product Details
  • ISBN-13: 9783689042905
  • Publisher: Amazon Digital Services LLC - Kdp
  • Binding: Paperback
  • Language: Polish
  • Returnable: N
  • Sub Title: Objawy, diagnozy, terapie, nowe odkrycia
  • Width: 140 mm
  • ISBN-10: 3689042909
  • Publisher Date: 29 Mar 2024
  • Height: 216 mm
  • No of Pages: 192
  • Spine Width: 11 mm
  • Weight: 299 gr


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