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Progress, challenges and global approaches to rare diseases

Acta Paediatrica, 2021-10, Vol.110 (10), p.2711-2716

2021

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Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Nature reviews. Drug discovery, 2020-02, Vol.19 (2), p.93-111

2020

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Rare diseases research: expanding collaborative translational research opportunities

Chest, 2013-07, Vol.144 (1), p.16-23

Groft, Stephen C

2013

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Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data

Rare Diseases Epidemiology: Update and Overview, p.3-21

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The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes Research

Journal of general internal medicine : JGIM, 2014-08, Vol.29 (Suppl 3), p.739-744

2014

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Preparing for the Future of Rare Diseases

Rare Diseases Epidemiology: Update and Overview, p.641-648

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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.223-225

2015

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Empowerment of patients: lessons from the rare diseases community

The Lancet (British edition), 2008-06, Vol.371 (9629), p.2048-2051

2008

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How to Advance Research, Education, and Training in the Study of Rare Diseases

Gastroenterology (New York, N.Y. 1943), 2019-10, Vol.157 (4), p.917-921

2019

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A past with uncertainty, a future with hope--rare disease day 2014 from a USA perspective

Orphanet journal of rare diseases, 2014-02, Vol.9 (1), p.31-31

Groft, Stephen C

2014

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Rare Diseases Research

Chest, 2013-07, Vol.144 (1), p.16-23

Groft, Stephen C., PharmD

2013

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Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

Rare Diseases Epidemiology: Update and Overview, p.25-38

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Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-308, Article 308

2021

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The case for a global rare-diseases registry

The Lancet (British edition), 2011-03, Vol.377 (9771), p.1057-1059

2011

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A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)

Rare Diseases Epidemiology: Update and Overview, p.349-369

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The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network

Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.66-66, Article 66

2016

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The need for worldwide policy and action plans for rare diseases

Acta Paediatrica, 2012-08, Vol.101 (8), p.805-807

2012

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Research into rare diseases of childhood

JAMA : the journal of the American Medical Association, 2014-05, Vol.311 (17), p.1729

2014

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Impact of pediatric critical illness and injury on families: a systematic literature review

Pediatrics (Evanston), 2006-12, Vol.118 Suppl 3 (Supplement_3), p.S203-S218

2006

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Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.109-109, Article 109

2023

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Publisher Correction: Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Nature reviews. Drug discovery, 2020-04, Vol.19 (4), p.291-291

2020

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Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological data

Advances in experimental medicine and biology, 2010, Vol.686, p.3

2010

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Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

Contemporary clinical trials, 2010-09, Vol.31 (5), p.394-404

2010

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Progress, challenges and global approaches to rare diseases

Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Rare diseases research: expanding collaborative translational research opportunities

Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data

The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes Research

Preparing for the Future of Rare Diseases

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

Empowerment of patients: lessons from the rare diseases community

How to Advance Research, Education, and Training in the Study of Rare Diseases

A past with uncertainty, a future with hope--rare disease day 2014 from a USA perspective

Rare Diseases Research

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

The case for a global rare-diseases registry

A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)

The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network

The need for worldwide policy and action plans for rare diseases

Research into rare diseases of childhood

Impact of pediatric critical illness and injury on families: a systematic literature review

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

Publisher Correction: Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological data

Inherited Arrhythmias : A national heart, lung, and blood institute and office of rare diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

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