Genetic Disease and Therapy.
clinical genetics
gene editing
gene therapies
genetic diagnostics
genetic disease
Journal
Annual review of pathology
ISSN: 1553-4014
Titre abrégé: Annu Rev Pathol
Pays: United States
ID NLM: 101275111
Informations de publication
Date de publication:
24 01 2021
24 01 2021
Historique:
entrez:
26
1
2021
pubmed:
27
1
2021
medline:
1
4
2021
Statut:
ppublish
Résumé
Genetic diseases cause numerous complex and intractable pathologies. DNA sequences encoding each human's complexity and many disease risks are contained in the mitochondrial genome, nuclear genome, and microbial metagenome. Diagnosis of these diseases has unified around applications of next-generation DNA sequencing. However, translating specific genetic diagnoses into targeted genetic therapies remains a central goal. To date, genetic therapies have fallen into three broad categories: bulk replacement of affected genetic compartments with a new exogenous genome, nontargeted addition of exogenous genetic material to compensate for genetic errors, and most recently, direct correction of causative genetic alterations using gene editing. Generalized methods of diagnosis, therapy, and reagent delivery into each genetic compartment will accelerate the next generations of curative genetic therapies. We discuss the structure and variability of the mitochondrial, nuclear, and microbial metagenomic compartments, as well as the historical development and current practice of genetic diagnostics and gene therapies targeting each compartment.
Identifiants
pubmed: 33497260
doi: 10.1146/annurev-pathmechdis-012419-032626
pmc: PMC9704033
mid: NIHMS1850350
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
145-166Subventions
Organisme : NIDDK NIH HHS
ID : F30 DK120213
Pays : United States
Organisme : NIDDK NIH HHS
ID : T32 DK007418
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007618
Pays : United States
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