Whole Genome Sequencing for Rare Diseases

15.1K

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70

authors

8

articles

Whole Genome Sequencing for Rare Diseases

15.1K

views

70

authors

8

articles

Editorial

19 September 2023

Editorial: Whole Genome Sequencing for rare diseases

Chiara Di Resta

and

Valeria D'Argenio

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Editors

2

Chiara Di Resta

Vita-Salute San Raffaele University

Valeria D'Argenio

CEINGE Advanced Biotechnologies, University of Naples Federico II

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If a disease affects fewer than 1 in 2000, the European Union defines it as a rare disease. Globally, around 300 million people live with a rare disease.

Such diseases can be categorised by a single symptom to complex patterns with multiple organs affected, often combined with cognitive and motor impairment. At least 72% of all rare diseases are genetic and 70% have childhood onset. Many patients are undiagnosed and do not receive optimal treatment. Today, only 5% of rare diseases have an approved treatment option. By identifying disease-causing mutations via the use of Whole Genome Sequencing this increases the possibility of personalized treatment and prevention strategies for such rare diseases.

This research topic will look at the current and future use that Whole Genome Sequencing has for the diagnosis and treatment of rare diseases.

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Editors

Chiara Di Resta

Vita-Salute San Raffaele University

Valeria D'Argenio

CEINGE Advanced Biotechnologies, University of Naples Federico II

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Frontiers in Medicine

Precision Medicine

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