Advancing Genomics for Rare Disease Diagnosis and Therapy Development Vol II

79.5K

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323

authors

42

articles

Advancing Genomics for Rare Disease Diagnosis and Therapy Development Vol II

79.5K

views

323

authors

42

articles

Editors

5

Zhichao Liu

Boehringer Ingelheim (United States)

Weida Tong

National Center for Toxicological Research (FDA)

Ruth Roberts

ApconiX

Tieliu Shi

Hunan University of Arts and Science

Mike Mikailov

United States Food and Drug Administration

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This Research Topic is part of a series with:

Advancing Genomics for Rare Disease Diagnosis and Therapy Development

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.

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Editors

Zhichao Liu

Boehringer Ingelheim (United States)

Weida Tong

National Center for Toxicological Research (FDA)

Ruth Roberts

ApconiX

Tieliu Shi

Hunan University of Arts and Science

Mike Mikailov

United States Food and Drug Administration

Impact

79,492 Total views

56,334 Article views

22,230 Article downloads

928 Topic views

Published In

Frontiers in Pharmacology

Translational Pharmacology

Frontiers in Genetics

Genetics of Common and Rare Diseases

Frontiers in Pediatrics

Genetics of Common and Rare Diseases

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