Cover Image

Curing genetic diseases through genome reprogramming /

Curing Genetic Diseases through Genome Reprogramming, Volume 182 captures an historic moment in the field of gene therapy--the dawn of a new age in which the dream of curing genetic diseases has become realizable.

Bibliographic Details
Corporate Author: ScienceDirect (Online service)
Other Authors: Petris, Gianluca
Format: eBook
Language:English
Published: Cambridge : Academic Press, 2021.
Subjects:
Medical genetics.
Genetic disorders.
Genetics, Medical
Genetic Diseases, Inborn
Génétique médicale.
Maladies génétiques.
Genetic disorders
Medical genetics
Electronic books.
Online Access:Connect to the full text of this electronic book
Table of Contents:
  • 4.5. Clinical applications and challenges for RNA editing treatment of inherited retinal disease
  • 4.5.1. Clinical targets
  • 4.5.2. Delivery and approach
  • 4.5.3. Off-target concerns
  • 5. Epigenetic editing
  • 5.1. Application to retinal disease: Targeting pathogenic genes in dominant diseases
  • 5.2. Targeting disease pathways
  • 5.3. Comparisons to other methods
  • 5.4. Challenges
  • 6. Toward clinical use of CRISPR genome editing for the treatment of retinal disease
  • 6.1. Immunogenic concerns
  • 6.2. Undesired genome editing
  • 6.3. Improving safety of CRISPR-Cas systems
  • 6.4. Delivery of CRISPR reagents to the retina
  • 7. Challenges and future perspectives
  • References
  • Chapter Three: Advances in gene editing strategies for epidermolysis bullosa
  • 1. The blistering skin disease epidermolysis bullosa
  • 1.1. Epidermolysis bullosa simplex
  • 1.2. Junctional epidermolysis bullosa
  • 1.3. Dystrophic epidermolysis bullosa
  • 2. Gene therapeutic applications for EB
  • 3. Gene editing development for the treatment of genodermatoses
  • 3.1. Inactivation of dominant-negative alleles via gene depletion
  • 3.2. Genome editing-mediated reading frame restoration of pathogenic alleles
  • 3.3. Footprint-less correction of pathogenic alleles via homology-dependent repair
  • 3.4. Alternative footprint-less correction strategies for pathogenic alleles
  • 4. Conclusion and considerations for future gene editing applications in EB
  • Acknowledgment
  • References
  • Chapter Four: Targeted genome editing for the correction or alleviation of primary Immunodeficiencies
  • 1. Introduction
  • 1.1. Primary immunodeficiencies (PIDs)
  • 1.1.1. Phenotypes
  • 1.1.2. Diagnosis
  • 1.1.3. Significance
  • 2. Classifications of PIDs
  • 2.1. X-linked severe combined immunodeficiency (X-SCID)
  • 2.1.1. Symptoms
  • 2.1.2. Biochemistry.
  • 1.2. The DMD gene
  • 1.3. Dystrophin structure and function
  • 1.4. Dystrophinopathies
  • 2. First-generation gene therapies for DMD
  • 2.1. Overview
  • 2.2. Gene replacement: Miniaturized dystrophins
  • 2.3. Exon skipping with antisense oligonucleotides (AONs)
  • 2.4. Vectorized exon-skipping with modified U7 small nuclear RNAs
  • 3. Second-generation approaches to DMD
  • 3.1. Overview
  • 3.2. Multiplex gene editing for exon deletion
  • 3.3. Single-cut gene editing for exon skipping and reframing
  • 3.4. Homology-directed gene repair for DMD mutation correction
  • 4. Challenges for current and future DMD therapies
  • 4.1. Overview
  • 4.2. Immunity issues
  • 4.3. Durability of adeno-associated virus episomes
  • 4.4. Safety
  • 5. Conclusions
  • References
  • Chapter Eight: Genome editing in the human liver: Progress and translational considerations
  • 1. Introduction
  • 2. The liver: A high value therapeutic target
  • 3. Liver biology and implications for genome editing
  • 3.1. Metabolic zonation, blood flow and fenestration
  • 3.2. Liver growth and implications for the pediatric population
  • 4. Genome editing technologies
  • 5. Disease specific challenges of genome editing in the liver
  • 5.1. Cell autonomous and non-cell autonomous liver diseases
  • 5.2. Hemophilia as an exemplar of a non-cell autonomous disease target
  • 5.3. Ornithine transcarbamylase deficiency as an exemplar of a cell autonomous disease target
  • 6. Strategies to achieve genome editing outcomes in the liver
  • 6.1. Locus-specific gene disruption
  • 6.2. Selective expansion of genome engineered cells
  • 6.3. Targeted insertion of therapeutic transgenes into the liver
  • 7. Translational considerations
  • 7.1. Cellular responses to Cas proteins
  • 7.2. Introducing unwanted mutations into the genome
  • 7.3. Logistic and commercial constraints
  • 8. Concluding remarks
  • References.