Medical Research

CRISPR, Gene Editing and IVF

FertilityIQ: Paula, great to have you back! You've had a busy month so catch us up on CRISPR and the data you just released?

Paula Amato: Good to be back and glad to see the site is growing! OK, so CRISPR is a gene-editing tool that acts like a molecular scissors to induce cuts in the DNA of an embryo at a targeted location. We used CRISPR to correct a disease-causing gene mutation in viable human embryos. The gene we targeted is called MYBPC3. A mutation in the MYBPC3 gene is one of the most common causes of a heart condition called hypertrophic cardiomyopathy (HCM), which can lead to sudden cardiac death in young people.

FertilityIQ: Sounds critical. So our community is trying to have a healthy baby. This is relevent to them, right?

Paula Amato: Yes, indeed. This technology, if eventually proven safe and effective, could theoretically prevent the transmission of serious genetic diseases from parents to their children and future generations. We'd use this in conjunction with PGD, which is out and available today.

FertilityIQ: Got it. So we have people on our site that are fearful about all sorts of challenges their offspring might have: psychiatric, endocrine, and on. Is this likely to help one disease state specifically?

Paula Amato: Theoretically it could be applied to any of the thousands of heterozygous (embryo has one normal copy and one abnormal copy of the gene) genetic diseases caused by single gene mutations.

FertilityIQ: A lot of our community already has frozen embryos. Could this tool one day be applied to embryos they've previously stored?

Paula Amato: It's pretty unlikely. An important finding of our study was that in order to overcome the issue of mosacism (a mixture of genetically normal and abnormal cells in the embryos), the CRISPR construct needed to be introduced into the egg at the same time as sperm injection (or ICSI).

FertilityIQ: So this is more on a "go-forward" basis. Any other misconceptions or questions we should sort out?

Paula Amato: That this will lead to so-called "designer babies" and eugenics. The National Academy of Sciences, and we agree, explicitly states that genetic modification should not be used for enhancement purposes because of the serious ethical concerns. Furthermore, we don't know which genes are responsible for traits like intelligence and it is likely to be many genes. If the repair mechanism we describe in our study holds true (i.e. the embryo appeared to use the normal copy of the gene from the other parent as a template to repair itself rather than the externally provided synthetic DNA template) it would also be difficult to replace an existing gene allele with a more desirable gene allele.

FertilityIQ: With misconceptions come roadblocks, atleast in our experience. What stands in the way of this actually getting used in the states?

Paula Amato: The two main barriers in the U.S. are lack of federal funding available for human embryo research and a law that prohibits the FDA from considering any applications for clinical trials involving genetic modification.

FertilityIQ: Let's say you overcome those, from an affordability standpoint, what are we talking? When something new hits the fertility market, the price is normally excruciating.

Paula Amato: I imagine it would incrementally increase the cost of IVF and PGD. As we know, IVF is expensive and not accessible to everyone in this country. This type of technology, if it continues to not be covered by insurance as in most cases, may exacerbate those inequities, and that is one of the many ethical concerns.

FertilityIQ: If a patient decided they wanted to help further the research, any suggestions?

Paula Amato: Lobby our government officials to allow NIH funding for human embryo research and the FDA to review applications for clinical trials related to this technology. Otherwise, I'm afraid the technology will advance in other countries with perhaps less strict regulatory oversight with potentially deleterious consequences. We should begin a transparent public discourse about the ethical issues and establish some international guidelines regarding germline gene editing.

FertilityIQ: OK, we'll get out your hair and let you get back to it. Can't thank you enough.

Paula Amato: Anytime, hope this helps! Come see us in Portland!

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