Advancing Genomics for Rare Disease Diagnosis and Therapy Development

250.9K

views

226

authors

29

articles

Advancing Genomics for Rare Disease Diagnosis and Therapy Development

250.9K

views

226

authors

29

articles

Editorial

25 September 2020

Editorial: Advancing Genomics for Rare Disease Diagnosis and Therapy Development

Zhichao Liu

,

Ruth Roberts

,

Tieliu Shi

,

Mike Mikailov

and

Weida Tong

3,232 views

0 citations

Editors

5

Zhichao Liu

Boehringer Ingelheim (United States)

Weida Tong

National Center for Toxicological Research (FDA)

Tieliu Shi

Hunan University of Arts and Science

Mike Mikailov

United States Food and Drug Administration

Ruth Roberts

ApconiX

Impact

Fetching...

About

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

Download ebook

PDF

EPUB

Share

Editors

Zhichao Liu

Boehringer Ingelheim (United States)

Weida Tong

National Center for Toxicological Research (FDA)

Tieliu Shi

Hunan University of Arts and Science

Mike Mikailov

United States Food and Drug Administration

Ruth Roberts

ApconiX

Impact

250,918 Total views

196,369 Article views

50,473 Article downloads

4,076 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

About Frontiers Research Topics

With their unique mixes of varied contributions from Original Research to Review Articles, Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author.

Suggest a topic