. Inter-homologue repair in fertilized human eggs?. Nature. 2018 Aug;560(7717):E5-E7. Epub 2018 Aug 8 PubMed.


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  1. The report provides an interesting approach using a heterozygous-dominant disease, and provides some clear translatability to many ADAD mutations. However, the mutation that was the focus of this research was a deletion, and most ADAD-causing mutations are single base pair substitutions.

    It is not certain at this time how many people with known ADAD mutations in their families consider pre-implantation IVF as a way of having children while significantly decreasing the risk of passing on the genetic defect; however, this does not appear to be a common approach at this time. Therefore, I'm not certain of the impact DNA repair through CRISPR would have in the near future.

    With that said, the current pre-implantation IVF screening approach is used by some with these mutations. The ability to make the procedure more efficient, if it has a cost impact, for instance, and is proven in the models used to lead to normal development, might make this approach more attractive.

    The cost and potential medical record implications of undergoing current IVF/PGD likely limit its use in many of our families. However, during our recent Dominantly Inherited Alzheimer Disease Family Conference, held at University College London in July, there were ADAD family members who reported using pre-implantation IVF as part of their decision to have children, so it is certainly being used. This procedure, if safe, effective, and reproducible, might make this option more commonly used.

    With these aspects in mind, I would certainly want to see this used in mutations with single nucleotide substitutions (variants) that characterize most ADAD mutations, and like to see the further development of the embryos as it relates to normal development after the normal sequence is introduced.

    Of note, there are studies in Duchenne muscular dystrophy using CRISPR/Cas9 that are planned for Phase 1 in the near future. It is certain that the researchers and families with familial dementias will be following these studies closely.

    View all comments by Eric McDade

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  1. CRISPR Edits Genome of Human Embryos