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Sällsynta sjukdomar: Symtom, diagnoser, behandlingar, nya rön

Sällsynta sjukdomar: Symtom, diagnoser, behandlingar, nya rön

          
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About the Book

Boken ger en omfattande och detaljerad introduktion till sällsynta sjukdomar och börjar med en förklaring av vad som utgör sällsynta sjukdomar, följt av en diskussion om deras klassificering, genetikens centrala roll och de många olika genetiska mutationer och störningar som kan leda till sällsynta sjukdomar. I boken betonas vikten av genetisk forskning för diagnos och behandling av dessa sjukdomar, med särskilt fokus på avancerade tekniker som helgenomsekvensering (WGS) och hela exomsekvensering (WES), samt riktade terapeutiska metoder som ger hopp för drabbade individer och deras familjer.
Mer än 50 specifika sällsynta sjukdomar beskrivs i detalj, inklusive cystisk fibros, Duchennes muskeldystrofi, Ehlers-Danlos syndrom och många andra, med modern diagnos och behandlingsalternativ som beskrivs i varje enskilt fall.
Särskild vikt läggs vid den aktuella forskningen och utvecklingen av nya behandlingar, inklusive genomsekvensering, genterapi, bioteknik, RNA-baserade behandlingar, CRISPR/Cas9 och genredigering, stamcellsterapi samt små molekyler och målinriktade läkemedel. Boken tar också upp den roll som artificiell intelligens och maskininlärning spelar när det gäller att identifiera nya mål och förutsäga terapiers effekt.
Boken avslutas med en genomgång av hur det är att leva med en sällsynt sjukdom, inklusive effekterna på familj, utbildning och karriär, samt strategier för att hantera vardagen. Den tar upp vikten av palliativ vård, livskvalitet, stödnätverk och självhjälpsgrupper samt hur man hanterar isolering och stigmatisering. Slutligen diskuteras rättsliga och politiska initiativ om sällsynta sjukdomar samt social trygghet och ekonomiskt stöd.


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Product Details
  • ISBN-13: 9783689042516
  • Publisher: Amazon Digital Services LLC - Kdp
  • Publisher Imprint: Bremen University Press
  • Height: 216 mm
  • No of Pages: 180
  • Spine Width: 10 mm
  • Weight: 236 gr
  • ISBN-10: 3689042518
  • Publisher Date: 03 Mar 2024
  • Binding: Paperback
  • Language: Swedish
  • Returnable: N
  • Sub Title: Symtom, diagnoser, behandlingar, nya rön
  • Width: 140 mm


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