Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era

The advent of next-generation sequencing (NGS) is heavily changing both the diagnosis of human conditions and basic biological research. It is now possible to dig deep inside the genome of hundreds of thousands or even millions of people and find both common and rare genomic variants and to perform...

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Autores principales:	Mattia Zaghi, Federica Banfi, Edoardo Bellini, Alessandro Sessa
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	next-generation sequencing (NGS) neurodevelopmental disorders (NDDs) diagnosis experimental modelling gene function Microbiology QR1-502
Acceso en línea:	https://doaj.org/article/ee5e365aab4148eb825b97321157f28e
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spelling	oai:doaj.org-article:ee5e365aab4148eb825b97321157f28e2021-11-25T16:54:10ZRare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era10.3390/biom111117132218-273Xhttps://doaj.org/article/ee5e365aab4148eb825b97321157f28e2021-11-01T00:00:00Zhttps://www.mdpi.com/2218-273X/11/11/1713https://doaj.org/toc/2218-273XThe advent of next-generation sequencing (NGS) is heavily changing both the diagnosis of human conditions and basic biological research. It is now possible to dig deep inside the genome of hundreds of thousands or even millions of people and find both common and rare genomic variants and to perform detailed phenotypic characterizations of both physiological organs and experimental models. Recent years have seen the introduction of multiple techniques using NGS to profile transcription, DNA and chromatin modifications, protein binding, etc., that are now allowing us to profile cells in bulk or even at a single-cell level. Although rare and ultra-rare diseases only affect a few people, each of these diseases represent scholarly cases from which a great deal can be learned about the pathological and physiological function of genes, pathways, and mechanisms. Therefore, for rare diseases, state-of-the-art investigations using NGS have double valence: their genomic cause (new variants) and the characterize the underlining the mechanisms associated with them (discovery of gene function) can be found. In a non-exhaustive manner, this review will outline the main usage of NGS-based techniques for the diagnosis and characterization of neurodevelopmental disorders (NDDs), under whose umbrella many rare and ultra-rare diseases fall.Mattia ZaghiFederica BanfiEdoardo BelliniAlessandro SessaMDPI AGarticlenext-generation sequencing (NGS)neurodevelopmental disorders (NDDs)diagnosisexperimental modellinggene functionMicrobiologyQR1-502ENBiomolecules, Vol 11, Iss 1713, p 1713 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	next-generation sequencing (NGS) neurodevelopmental disorders (NDDs) diagnosis experimental modelling gene function Microbiology QR1-502
spellingShingle	next-generation sequencing (NGS) neurodevelopmental disorders (NDDs) diagnosis experimental modelling gene function Microbiology QR1-502 Mattia Zaghi Federica Banfi Edoardo Bellini Alessandro Sessa Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
description	The advent of next-generation sequencing (NGS) is heavily changing both the diagnosis of human conditions and basic biological research. It is now possible to dig deep inside the genome of hundreds of thousands or even millions of people and find both common and rare genomic variants and to perform detailed phenotypic characterizations of both physiological organs and experimental models. Recent years have seen the introduction of multiple techniques using NGS to profile transcription, DNA and chromatin modifications, protein binding, etc., that are now allowing us to profile cells in bulk or even at a single-cell level. Although rare and ultra-rare diseases only affect a few people, each of these diseases represent scholarly cases from which a great deal can be learned about the pathological and physiological function of genes, pathways, and mechanisms. Therefore, for rare diseases, state-of-the-art investigations using NGS have double valence: their genomic cause (new variants) and the characterize the underlining the mechanisms associated with them (discovery of gene function) can be found. In a non-exhaustive manner, this review will outline the main usage of NGS-based techniques for the diagnosis and characterization of neurodevelopmental disorders (NDDs), under whose umbrella many rare and ultra-rare diseases fall.
format	article
author	Mattia Zaghi Federica Banfi Edoardo Bellini Alessandro Sessa
author_facet	Mattia Zaghi Federica Banfi Edoardo Bellini Alessandro Sessa
author_sort	Mattia Zaghi
title	Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
title_short	Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
title_full	Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
title_fullStr	Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
title_full_unstemmed	Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
title_sort	rare does not mean worthless: how rare diseases have shaped neurodevelopment research in the ngs era
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/ee5e365aab4148eb825b97321157f28e
work_keys_str_mv	AT mattiazaghi raredoesnotmeanworthlesshowrarediseaseshaveshapedneurodevelopmentresearchinthengsera AT federicabanfi raredoesnotmeanworthlesshowrarediseaseshaveshapedneurodevelopmentresearchinthengsera AT edoardobellini raredoesnotmeanworthlesshowrarediseaseshaveshapedneurodevelopmentresearchinthengsera AT alessandrosessa raredoesnotmeanworthlesshowrarediseaseshaveshapedneurodevelopmentresearchinthengsera
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Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era

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