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Possible uses of genome editing in human reproduction
• Both members of the couple carriers of an Autosomal Recessive disease (e.g. metabolic disorders, Tay Sachs disease...).
• One member affected of an Autosomal Dominant disease (e.g. Familial hypercholesterolemia, Von Willebrand disease...).
Genome editing would require making IVF embryos, using preimplantation genetic diagnosis (PGD) to identify those that would have the disease, repairing the gene, and implanting the embryo.
Easier and safer to use PGD to identify and implant the embryos that are not at risk (a parent heterozygous for a dominant disease (50%) or two parents who are carriers for a recessive disease (75%))
PGD is the method of choice in such cases
PCC Genetics - ESHRE BCN 2018
Possible uses of genome editing in human reproduction
• Both members affected with the same monogenic disease
(homozygous for recessive disease)(E.g: Cystic Fibrosis)
Correction of the affected gene in the germline of one of the prospective parents or in embryos
• One member homozygous for an Autosomal Dominant disease () e.g Huntington disease. Achondroplasia, Marfan syndrome, policystic kidney disease)
Correction of the affected gene in the germline of the affected member or in embryos
• One member affected by a chromosomal structural aberration (e.g: 21;21 translocation)
Separation of the 2 chromosomes and restoration of the centromere and missing p-arms in the germline or in embryos
PCC Genetics - ESHRE BCN 2018
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