Research Topic

Prevention, Diagnosis and Treatment of Rare Disorders

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Rare diseases have moved from the backstage of investigator interest to the theatre of biotechnology development. There is now a belief that modern medicine will provide a “magic” cure for long-neglected patients with uncomfortable diseases that do not fit naturally in the conventional organizations of ...

Rare diseases have moved from the backstage of investigator interest to the theatre of biotechnology development. There is now a belief that modern medicine will provide a “magic” cure for long-neglected patients with uncomfortable diseases that do not fit naturally in the conventional organizations of Western Health Care. Orphan Drug legislation of 1983 in the United States and comparable follow-on in Europe (2001-2) attained the goal of stimulating therapeutic development in diseases with very small markets. Marketing exclusivity has incentivized -and monetized - ‘Rare diseases’: despite apparent constraints for conventional regulatory approval, corporate Biotech has merged gratefully with the global pharmaceutical industry. Niche expertise and desperate patient advocates alongside naïve specialists have, in the era of next-generation DNA sequencing, delivered blockbuster drugs on the multi-national stage. With unitary genetic causes in well-characterized patients, relatively short trials showing first signs of efficacy have persuaded sympathetic regulators to approve hundreds of orphan drugs.

Rare diseases have a global affect. There remain places where poverty, poor expectations and restricted freedoms co-exist with gross social inequality and fatuous wealth. The entrepreneurial model for biotech investment has served rare diseases well but without self-reflection and change, it is doomed to fail. Affected brothers and sisters of patients (in effect siblings linked by the disease as much as origin) in different continents will not permanently tolerate inequitable distribution of treatment or even the provision of good clinical care. The goal is to explore matters of funding and the support of patients with rare diseases and their families – proving, as in the early evolution of orphan drug legislation, that the redemptive power of human endeavor and compassion ultimately will determine how global practices change for those in need. Our goal is to share, and unite all those in this field from international policy makers to healthcare professionals under the best scientific endeavors.

This Research Topic aims to present the central issues surrounding the overall delivery and future Pharmacology of Rare Diseases. Our scope sets out to bring an international perspective on the contemporary meaning of ‘Rare’ - enriched at every level in rich societies and contrast this with the meaning of rare for patients in resource-poor economies. We invite scientists to review the therapeutic triumphs of scientific medicine including early diagnosis by appropriate screening as these impinge on innovative pharmacology and regulatory precepts. Our authors should consider alternative models to improve the fate of all patients globally and develop a productive symbiosis in which modern economies contribute, as well as gain from the plight and collaboration of patients with rare diseases in societies which have yet to develop any means otherwise to support them. Among our authors, we invite humanitarian contributors from diverse systems of healthcare and those who can propose innovative strategies that will counter the extreme inequality of investment and the inequitable provision that is the reality of most who suffer. Specific themes we would like to address include but are not limited to:

- Innovative concepts for expensive medicines
- Entrepreneurial marketization of rare conditions without universal access
- Rare disorders in Russia
- Rare metabolic disorders in Eastern Europe
- Access to safe medicines
- European Expert Group on Orphan Drugs
- Repurposing for rare diseases
- Rare diseases and the real-world influence of consanguinity
- Value Assessment Frameworks for orphan drugs
- Crowdfunding for research and development
- Diagnostic delay

Topic Editor Dr Timothy Martin Cox is co-founder of Cambridge Gene therapy. A currently dormant company founded to support gene therapy trials for ultra-rare, fatal neurodegenerative diseases. He also receives financial support from Sanofi Aventis for independently conceived studies into the pathogenesis Gaucher disease through a centre of excellence award contracted with the University of Cambridge and is PI of two commercially sponsored phase 3 clinical trials in severe sphingolipid diseases using the substrate-reduction stratagem. This approach for these are separate to that of the proposed Research Topic. All other Topic Editors declare no competing interests with regards to the Research Topic subject


Keywords: Orphan drugs, rare diseases, ultra-rare disorders, market access, biopharmaceutical industry


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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