In the European Union (EU), about 30 million people are estimated to be affected by one of 6,000 - 8,000 rare diseases, which have long been considered the “therapeutic orphans” of Medicine. As a consequence, affected individuals and their families are particularly disadvantaged in many respects: tedious journeys until a precise diagnosis can be established, lack of therapeutic strategies, scarce expertise, and fragmented health infrastructures that put an immense burden on affected individuals and their families, and the society as a whole. To improve the situation of individuals with rare diseases, the EU has recognized rare diseases as a field of major unmet medical needs for more than two decades, has invested about 2.4 billion euros from 2007 - 2020 for collaborative research under the 7th Framework Program (FP7) and Horizon 2020, and has launched Horizon Europe as research and innovation program for 2021 - 2027.
Although global rare disease goals have not yet been met, the situation is potentially about to change thanks to continuous collaborative efforts, investments, and innovations. Orphan drug legislation has been successful in stimulating therapeutic innovation, and patients and pharmaceutical companies have both benefited from the development of new drugs, although these advances are still confined to a small number of diseases. In parallel, improved diagnostic strategies, such as newborn screening and modern high throughput genetic testing, have highlighted the enormous impact which the early initiation of disease-modifying therapies can have on the prognosis of these conditions. The advent of genetic therapies is now set to make rare diseases a major area of innovation in Medicine, with single gene defects being the ideal targets for the development of advanced medicinal therapy products, such as gene therapy and other innovative genetic therapies (e.g. mRNA therapy and antisense oligonucleotide therapy). However, with new opportunities come new challenges, such as safety, long-term efficacy, sustainability, pricing, and the provision of access to these new innovative medications.
This Collection sets out to explore how these technologies are being applied and how this might change our practice in the future. To achieve this overarching goal we invite those with a particular individual, scientific and clinical interest in this highly dynamic field of Medicine to submit original articles and reviews focusing on one or more of the following specific goals:
• To understand the principles of the techniques used for replacing, modulating and altering genetic information in order to cure disease or attenuate the clinical phenotype
• To learn about current strategies used to deliver nucleic acids to different organs and compartments within the body.
• To explore the clinical development of genetic therapies, particularly the identification of meaningful endpoints, and the determination of dosing regimens.
• To define the challenges in providing access to high-priced medications for rare diseases and to look at alternative pricing models
• To learn about the patient's perspectives, expectations, and concerns about genetic therapies.