Type(s) de contenu et mode(s) de consultation : Texte noté : sans médiation

Auteur(s) : Geraghty, James A. (1954-....)  Voir les notices liées en tant qu'auteur

Titre(s) : Inside the orphan drug revolution [Texte imprimé] : the promise of patient-centered biotechnology / James A. Geraghty

Publication : Cold Spring Harbor, New York : Cold Spring Harbor Laboratory press, copyright 2022

Description matérielle : 1 vol. (XXVII-265 p.-[12] p. de pl.] : ill. ; 24 cm

Note(s) : Notes bibliogr. Index
"There are thousands of diseases classed as "rare" because they afflict only a small number of people. These patient groups were long ignored by a pharmaceutical industry that judged them too small to provide a return on the investment needed to develop an effective remedy. Forty years ago, a revolution started that transformed the prospects of patients with rare diseases. This book is in part a history, with eyewitness accounts of advances as they occurred and portraits of the pioneering scientists and physicians, tireless activists, and visionary business leaders who made the revolution happen, and it tells deeply personal stories of patients and parents willing to risk new, untried therapies"

Sujet(s) : Médicaments orphelins -- Emploi en thérapeutique  Voir les notices liées en tant que sujet
Médicaments orphelins -- Tests -- Histoire  Voir les notices liées en tant que sujet
Maladies rares -- Thérapeutique  Voir les notices liées en tant que sujet

Indice(s) Dewey :  615.107 24 (23e éd.) = Médicaments - Recherche expérimentale  Voir les notices liées en tant que sujet

Identifiants, prix et caractéristiques : ISBN 9781621824688. - ISBN 1621824683 (rel.)

Identifiant de la notice  : ark:/12148/cb47239255d

Notice n° :  FRBNF47239255 (notice reprise d'un réservoir extérieur)

Table des matières : Machine generated contents note:pt. One. THE VANGUARD -- ; 1.. Pre-Revolutionary Stirrings -- ; The deep roots of the orphan drug revolution -- ; 2.. Leading in the Revolution -- ; The historic importance of hemophilia therapies -- ; 3.. Somehow a Miracle Happens -- ; Gaucher disease and the emergence of Genzyme -- ; pt. Two. HARD-WON SUCCESSES -- ; 4.. Patients Are Everywhere -- ; Product launches in Europe, and well beyond -- ; 5.. Broader Fronts Emerge -- ; Alphabet soup: CF, PNH, SMA, HAE, DMD, TTR -- ; 6.. Making Medicines in Milk -- ; A long, unlikely path to two small orphan drugs -- ; 7.. The End of the Beginning -- ; Genzyme tries to do too much, and loses it all -- ; pt. Three. A SECOND WAVE -- ; 8.. Starting from Scratch -- ; After a vacuum, "nothing is impossible" at TRY -- ; 9.. To Boldly Go: Into the Brain -- ; The challenges of CNS diseases at Voyager -- ; 10.. Learning to "Regulate" DNA -- ; Going well beyond "junk DNA" at Fulcrum -- ; 11.. Into "Ultra-Orphan" Diseases -- ; Taking on ultra-rare conditions at Orchard -- ; 12.. To China, and Hopefully Back -- ; Pursuing a 20-year mission at CANbridge -- ; 13.. Where Patients Are Waiting -- ; New start-ups tackle diseases yet unserved -- ; 14.. Some Brief Lessons Learned -- ; Observations for orphan drug entrepreneurs -- ; pt. Four. THE CHALLENGES AHEAD -- ; 15.. The Challenge of Affordability -- ; Ensuring availability for patients and society -- ; 16.. Toward Long-Term Sustainability -- ; With a revolution comes new responsibilities.