Research Topic

Advancing Genomics for Rare Disease Diagnosis and Therapy Development

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Rare diseases affect a small percentage of the population but are often chronically disabling and life-limiting with few treatment options. The FDA strives to improve rare disease treatment; over the last decade, one-third of new drug approvals were therapies for rare diseases. One significant challenge for ...

Rare diseases affect a small percentage of the population but are often chronically disabling and life-limiting with few treatment options. The FDA strives to improve rare disease treatment; over the last decade, one-third of new drug approvals were therapies for rare diseases. One significant challenge for orphan drug development is the lack of knowledge about the natural history of rare diseases. The length of time from symptom onset to an accurate diagnosis is around 5 years for a rare disease. Approximately 80% of rare diseases are genetic. Emerging technologies such as next generation sequencing (NGS) provide unprecedented opportunity to facilitate rare disease diagnosis and treatment development.

We welcome investigators to contribute original research articles as well as review or opinion articles that seek to address how genomics can advance rare disease diagnosis and treatment development. A particular interest will be given to papers exploring or discussing the application of different genomic techniques such as RNAseq, DNAseq, and Mirseq in the rare disease field.

Potential topics include but are not limited to the following:
• Application of NGS for diagnosis biomarker development for rare diseases
• Integrative analysis of genomics and phenotypic information for mechanistic understanding of rare diseases
• Bioinformatics methodologies and pipelines for genomics data analysis of rare diseases
• Drug repositioning of rare diseases in the era of precision medicine
• Systematic studies of rare diseases and its association with common diseases
• Data standardization of rare disease terminology and ontology development
• Advanced techniques for efficient utilization of high performance computing clusters and cloud systems for genomics data analysis of rare diseases


Keywords: Genomics, Rare Diseases, Therapy, Drug Repositioning


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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