Expert Opinion on Orphan Drugs, Volume 2, Issue 11 (2014)

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Expert Opinion on Orphan Drugs, Volume 2, Issue 11 (2014)

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Interview

Article
Working collaboratively and internationally to improve the lives of people affected by rare disease
Maria Mavris PhD & Mary Dunkle
Pages: 1117-1121
Published online: 07 Nov 2014
First Page PreviewforWorking collaboratively and internationally to improve the lives of people affected by rare disease | Full Text | PDF (189.2 KB)
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Editorials

Editorial
A hidden priority: the paradox of rarity (EURORDIS perspective)
Yann Le Cam (Chief Executive Officer)
Pages: 1123-1125
Published online: 17 Oct 2014
AbstractforA hidden priority: the paradox of rarity (EURORDIS perspective) | Full Text | References | PDF (114.4 KB)
  • 793 Views
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Editorial
A hidden priority: the paradox of rarity (NORD perspective)
Peter L Saltonstall
Pages: 1127-1128
Published online: 13 Oct 2014
CitationforA hidden priority: the paradox of rarity (NORD perspective) | Full Text | PDF (95.1 KB)
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Patient Story

Article
Adventures of an advocate: Annette De Bow’s big journeys
Pages: 1129-1130
Published online: 05 Nov 2014
CitationforAdventures of an advocate: Annette De Bow’s big journeys | Full Text | PDF (167.2 KB)
  • 357 Views
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Editorial

Editorial
The diagnostic gap – an expert opinion
Britta Berglund RN PhD
Pages: 1131-1133
Published online: 20 May 2014
AbstractforThe diagnostic gap – an expert opinion | Full Text | References | PDF (124.4 KB)
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Patient Story

Article
Knowing more about Noonan, by Samantha Scheer
Pages: 1135-1136
Published online: 07 Nov 2014
CitationforKnowing more about Noonan, by Samantha Scheer | Full Text | PDF (183.8 KB)
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Review

Review Article
Pulmonary arterial hypertension: a rare disease that encourages the development of multiple treatments
Peter Norman MBA PhD
Pages: 1137-1145
Published online: 29 May 2014
AbstractforPulmonary arterial hypertension: a rare disease that encourages the development of multiple treatments | Full Text | References | PDF (323.4 KB)
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Editorials

Editorial
Access and availability of orphan drugs in the United States: advances or cruel hoaxes?
J Russell Teagarden MA DMH, Thomas F Unger PhD & Gigi Hirsch (Executive Director) MD
Pages: 1147-1150
Published online: 26 Sep 2014
AbstractforAccess and availability of orphan drugs in the United States: advances or cruel hoaxes? | Full Text | References | PDF (135.4 KB)
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Editorial
A US perspective on newborn screening: a powerful tool for prevention
Andrea E DeBarber (Research Assistant Professor) & Robert D Steiner (Executive Director-Marshfield Clinic Research Foundation and Visiting Professor)
Pages: 1151-1157
Published online: 31 Oct 2014
AbstractforA US perspective on newborn screening: a powerful tool for prevention | Full Text | References | PDF (161.7 KB)
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Editorial
Working with the NHS to develop the Alström multi-disciplinary clinic service
Kay Parkinson (Director and Founder) LLB (Hons) Dip Legal Practice
Pages: 1159-1161
Published online: 28 Oct 2014
AbstractforWorking with the NHS to develop the Alström multi-disciplinary clinic service | Full Text | PDF (264.8 KB)
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Patient Story

Article
Stiff person syndrome, by Liz Blows
Pages: 1163-1164
Published online: 07 Nov 2014
CitationforStiff person syndrome, by Liz Blows | Full Text | PDF (178.8 KB)
  • 537 Views
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Editorials

Editorial
Genethon: patient-empowered research
Frédéric Revah (Chief Executive Officer) PhD
Pages: 1165-1170
Published online: 25 Oct 2014
AbstractforGenethon: patient-empowered research | Full Text | References | PDF (291.1 KB)
  • 613 Views
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Editorial
Partnering in medical education: rare disease organizations bring experts and a patient voice to the conversation
Stephanie Chisolm PhD, Ellen Salkeld PhD, Alice Houk MPS & John Huber MS
Pages: 1171-1174
Published online: 01 Oct 2014
AbstractforPartnering in medical education: rare disease organizations bring experts and a patient voice to the conversation | Full Text | References | PDF (132.4 KB)
  • 790 Views
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Editorial
Findacure: empowering patient groups for drug development
Anthony K Hall (Co-founder of Findacure, Principal consultant at Cudos) MB BS BSc AKC, Nicolas Sireau BA (Oxon) MA MSC PhD & Flóra Raffai BSc
Pages: 1175-1179
Published online: 01 Nov 2014
AbstractforFindacure: empowering patient groups for drug development | Full Text | References | PDF (202.9 KB)
  • 561 Views
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Editorial
The orphan framework as a new opportunity: an expert opinion
Segundo Mariz, Stelios Tsigkos, Laura Fregonese, Stiina Aarum, Eleonora Dehlink, Jordi Llinares & Bruno Sepodes
Pages: 1181-1186
Published online: 28 Oct 2014
AbstractforThe orphan framework as a new opportunity: an expert opinion | Full Text | References | PDF (138.6 KB)
  • 897 Views
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Editorial
The Progeria Research Foundation: its remarkable journey from obscurity to treatment
Audrey Gordon & Leslie Gordon
Pages: 1187-1195
Published online: 30 Oct 2014
AbstractforThe Progeria Research Foundation: its remarkable journey from obscurity to treatment | Full Text | References | PDF (818.1 KB)
  • 2186 Views
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Reviews

Review Article
The emergence of gene therapy for rare diseases
M Ian Phillips & Andrew B Burns
Pages: 1197-1209
Published online: 28 Oct 2014
AbstractforThe emergence of gene therapy for rare diseases | Full Text | References | PDF (354.4 KB)
  • 390 Views
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Review Article
The impact of integrated omics technologies for patients with rare diseases
Louise Johnston, Rachel Thompson, Catherine Turner, Kate Bushby, Hanns Lochmüller & Volker Straub
Pages: 1211-1219
Published online: 30 Oct 2014
AbstractforThe impact of integrated omics technologies for patients with rare diseases | Full Text | References | PDF (207 KB)
  • 268 Views
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Editorial

Editorial
How close are we to a cure for Duchenne muscular dystrophy?
Pat Furlong
Pages: 1221-1223
Published online: 17 Sep 2014
First Page PreviewforHow close are we to a cure for Duchenne muscular dystrophy? | Full Text | References | PDF (217.7 KB)
  • 830 Views
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Drug Evaluations

Ivacaftor therapy for cystic fibrosis
Susanna A McColley MD
Pages: 1225-1232
Published online: 21 Jul 2014
AbstractforIvacaftor therapy for cystic fibrosis | Full Text | References | PDF (441.8 KB)
  • 143 Views
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Bortezomib for the treatment of mantle cell lymphoma
Danyu Sun MD PhD & Mitchell R Smith (Director of Lymphoid Malignancies Program) MD PhD
Pages: 1233-1241
Published online: 30 Oct 2014
AbstractforBortezomib for the treatment of mantle cell lymphoma | Full Text | References | PDF (301.9 KB)
  • 60 Views
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Resources

Article
Resources
Pages: 1243-1244
Published online: 07 Nov 2014
CitationforResources | Full Text | PDF (97.2 KB)
  • 305 Views
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