Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis

Yang, Xiu‐An

doi:10.3389/fgene.2021.808042

Cited by 2 publications

(1 citation statement)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Whole-genome sequencing (WGS) along with improvement in several other genetic screening techniques hold promise for presymptomatic and more accurate diagnosis of rare diseases 6 . Next generation sequencing (NGS), non-invasive prenatal testing, carrier screening and advanced bioinformatics approaches for variant identification have been some of the key approaches applied 7 . Non-coding DNA sequencing by WGS with these advancements can lead to earlier diagnoses, allowing for preventative measures, targeted therapies, and potentially improved outcomes 8 .…”

Section: Introductionmentioning

confidence: 99%

Quantifying hope: An EU perspective of rare disease therapeutic space and market dynamics

Cacoub,

Lefebvre,

Milunov

et al. 2024

Preprint

View full text Add to dashboard Cite

SummaryRare diseases, affecting millions globally, pose a significant healthcare burden despite impacting a small population. While most are genetic and often begin in childhood, diagnosis remains slow and only 5% have approved treatments. The UN emphasizes improved access to primary care for these patients and their families. Whole-genome sequencing (WGS) and next-generation sequencing (NGS) offer hope for earlier and more accurate diagnoses, potentially leading to preventative measures and targeted therapies. This study explores the therapeutic landscape for rare diseases, analyzing drugs in development by 176 companies and those already approved by the European Medicines Agency (EMA). We differentiate between orphan drugs with market exclusivity and repurposed existing drugs, both crucial for patients. By analyzing market size, segmentation, and publicly available data, this comprehensive study aims to pave the way for improved treatments and a brighter future for rare disease patients.FundingThis work received no external funding. External agencies or companies had no role in the idea and study design, model execution and evaluation, and drafting of figures and manuscript.

show abstract

Section: Introductionmentioning

confidence: 99%