Research Topic

NGS Technologies of Rare Diseases Diagnosis

About this Research Topic

A disease is defined as rare when it affects less than 200,000 individuals in the US or less than one in 2,000 people in Europe. While each disease affects a small percentage of the population, with over 7,000 rare diseases described, the number of affected individuals is estimated to be more than 25 million ...

A disease is defined as rare when it affects less than 200,000 individuals in the US or less than one in 2,000 people in Europe. While each disease affects a small percentage of the population, with over 7,000 rare diseases described, the number of affected individuals is estimated to be more than 25 million people in the US and nearly 30 million in Europe. These rare diseases usually have a genetic origin and nearly 50 to 75 percent begin in childhood. Although some advances have been made in this area, pediatric rare diseases are still a large medical, social and economic issue, and early diagnosis has become a crucial point for the management of this group of patients.

Genomic sequencing has emerged as one of the most promising diagnostic tools in the field of rare diseases, particularly those affecting the pediatric population. Several studies have demonstrated how the adoption of these technologies increases the diagnostic rate and reduces the time to diagnosis, improving outcomes while reducing health costs. However, DNA sequencing seems to be reaching its diagnostic limit and new approaches and tools are needed to overcome these limitations. RNA sequencing (RNA-Seq) has emerged as a useful tool in the field of rare diseases, allowing the identification of new disease mechanisms and helping us to better understand the information generated by DNA sequencing.

This Research Topic aims to describe the actual use and future perspectives of RNA-Seq for rare disease diagnosis in the pediatric population.

The editors envisage seeing the following thematic areas covered in this collection:

• RNA-Seq diagnostic applications for pediatric patients
• Applications of RNA-Seq for the improvement of disease diagnosis, monitoring and treatment
• Identification of disease biomarkers in pediatric patients using RNA-Seq
• Integration of transcriptomic and genomic data in pediatric rare diseases
• Identification of new disease mechanisms.


* Note: Guest Editor Dr. Emiliano González Vioque has a patent: Treatment Of Mitochondrial Diseases *


Keywords: NGS, rare diseases, RNA-seq, Integrative omics


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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Submission Deadlines

18 June 2021 Manuscript
18 July 2021 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

18 June 2021 Manuscript
18 July 2021 Manuscript Extension

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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