New Pharmacological Approaches for Rare Diseases

Dear Colleagues,

The expression ‘‘rare disease’’ describes a group of diseases whose prevalence is so low (between 3.9 and 6.6 in 10000 subjects depending on the country) that they are considered a secondary market by big pharma. In addition, the low number of affected individuals makes it difficult to develop in-depth basic research programs and to ensure global specific medical training for the adequate diagnosis and treatment of these diseases from their earliest manifestations. However, although the name suggests that these pathologies are infrequent, the fact is that this category approximately encompasses 6000 different diseases that collectively affect more that 300 million people worldwide. In this context, the rare diseases field represents a currently unmet clinical need and provides, at the same time, an exciting area for basic and applied research. Hence, this Special Issue on “New Pharmacological Approaches for Rare Diseases” aims to provide an up-to-date perspective of those emerging therapeutic strategies that are nowadays under active development and has the potential to provide, in the upcoming years, new pharmacological treatments to face this kind of largely ignored and usually fatal diseases. This Special Issue will publish original research articles as well as comprehensive reviews, including perspectives in the field on the current understanding of molecular mechanisms and pathways that could potentially became therapeutic targets. Manuscripts on genome-wide association studies; molecular medicine, including gene-editing possibilities; and ongoing medicinal chemistry programs focused on specific rare diseases are also welcome.

Prof. Dr. Silvia Ortega-Gutiérrez
Guest Editor

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