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Genome editing applications G. Therapeutic applications
In vivo repair of gene mutations associated with specific diseases
• Editing a patient's immune cells to delete the CCR5 gene to treat human immunodeficiency virus (HIV) infection, conferring resistance to HIV.
• Inactivating the mutant allele in retinal cells to treat progressive blindness caused by dominant forms of retinitis pigmentosa
• Editing liver cells to restore a functional copy of the gene encoding low-density lipoprotein receptors to prevent myocardial infarctions (homozygous familial hypercholesterolemia)
• Editing blood stem cells for sickle cell anemia and haemophilia PCC Genetics - ESHRE BCN 2018
Germline genome editing
DNA editing of germline can be performed in
1. Stem cells
• Pluripotent stem cells to be differentiated into gametes
to further give rise to an embryo (in vitro gametogenesis
–IVG)
• Spermatogonial stem cells
2. Zygotes or Embryos
PCC Genetics - ESHRE BCN 2018
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