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Translational Science of Rare Diseases

Translational Science of Rare Diseases

Published in Association with IOS Press

eISSN: 22146512 | ISSN: 22146490

This journal will accept original scientific articles focused on all aspects of rare disease research; from genetic defect to a defined and validated intervention. This will include basic research related to target identification for intervention in specific rare diseases, systems biology research that may lead to binning currently disparate rare diseases, preclinical data supporting small molecule, biologic, gene therapy or cell based approaches to therapeutics, novel animal models for rare diseases applications, and research related to repositioning approved or late stage clinical compounds for rare diseases.

The focus also extends to clinical research in rare diseases spanning basic research to surmount the overarching problems of clinical trials for small patient populations, patient recruitment and retention, and power, use of novel adaptive clinical trial design, natural history studies, endpoint and clinical outcome criteria that may be broadly applicable, better diagnostic criteria for diseases that are defined by extreme phenotypes. Another topic of clinical interest will be the construction of new informatics tools for registry building. There will also be a focus on issues of regulatory policy for rare disease; including reports on new orphan designations, changes in regulatory policy and policies of rare disease reimbursement as well as patient perspectives.

The journal will feature independent, original research articles as well as in-depth review of specific rare diseases and therapeutics, and opinion pieces from regulators, patient advocates and leading industry and academic researchers focused on rare diseases.

This journal will accept original scientific articles focused on all aspects of rare disease research; from genetic defect to a defined and validated intervention. This will include basic research related to target identification for intervention in specific rare diseases, systems biology research that may lead to binning currently disparate rare diseases, preclinical data supporting small molecule, biologic, gene therapy or cell based approaches to therapeutics, novel animal models for rare diseases applications, and research related to repositioning approved or late stage clinical compounds for rare diseases. The focus also extends to clinical research in rare diseases spanning basic research to surmount the overarching problems of clinical trials for small patient populations, patient recruitment and retention, and power, use of novel adaptive clinical trial design, natural history studies, endpoint and clinical outcome criteria that may be broadly applicable, better diagnostic criteria for diseases that are defined by extreme phenotypes. Another topic of clinical interest will be the construction of new informatics tools for registry building. There will also be a focus on issues of regulatory policy for rare disease; including reports on new orphan designations, changes in regulatory policy and policies of rare disease reimbursement as well as patient perspectives. The journal will feature independent, original research articles as well as in-depth review of specific rare diseases and therapeutics, and opinion pieces from regulators, patient advocates and leading industry and academic researchers focused on rare diseases.

Editor-in-Chief
Rashmi Gopal-Srivastava National Institutes of Health, USA
Alan K. Percy University of Alabama School of Medicine, USA
Associate Editor
Stephen C. Groft National Institutes of Health, USA
Kenjiro Kosaki Keio University School of Medicine, Japan
Social Media Editor
Harsha K. Rajasimha Indo US Organization for Rare Diseases, USA
Editorial Board Member
Shivarajan Manickavasagam Amudhavalli, MBBS, FACMG,FAAP Children's Mercy Hospital, Kansas City, MO, USA
Xinhua Bao Peking University First Hospital, China
Lindsay Burrage, MD, PhD Baylor College of Medicine, Houston, TX, USA
John Christodoulou Murdoch Childrens Research Institute. Australia
Angus Clarke Cardiff University, UK
Simon Day NDA Group, UK
Philip M. Farrell UW School of Medicine and Public Health, USA
Carlos Ferreira National Human Genome Research Institute, USA
Ann E. Frazier, PhD Murdoch Children's Research Institute, Parkville, VIC, Australia
Meral Gunay-Aygun National Human Genome Research Institute, USA
Melissa Haendel University of Colorado Anschutz Medical Campus, USA
Bruce Korf University of Alabama Birmingham, USA
Michele Manion Primary Ciliary Dyskinesia Foundation, USA
Chuck Mohan United Mitochondrial Disease Foundation, USA
Sandesh C.S. Nagamani, MBBS, MD Baylor College of Medicine, Houston, TX, USA
Sarah E. O’Kelley University of Alabama at Birmingham, USA
Phillip L. Pearl Boston Children's Hospital, USA
Ratna Puri Sir Ganga Ram Hospital, India
Marco Roos Leiden University Medical Centre, The Netherlands
Ola Skjeldal Rikshospitalet University Hospital, Norway
Marshall Summar Children’s National Hospital, USA
John L.P. Thompson Columbia University, USA
Bruce Trapnell CCHMC, USA
Carla M.L. van Herpen Radboud University Medical Center, The Netherlands
Wendy A.G. van Zelst-Stams Radboud University Medical Center, The Netherlands
Laurent Villard INSERM and Aix Marseille University, France
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