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Is there a way of treating or preventing a genetic disease?

2 fertility expert(s) answered this question

Genetic conditions - what are the prevention and treatment methods?

When you are planning to start a family and you are aware of some genetic conditions running in your family or wish to avoid genetic issues in your offspring, you might be wondering what are they ways of preventing and treating genetic conditions.

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Answer from the fertility expert:
Maria José Mendiola, Gynaecologist in Reproductive Medicine & Reproductive Genetics, Clínica Monterrico
Answer from the fertility expert:
Douglas Lester, Co-Founder & Chief Scientific Officer, Fertility Genomics

Patients suffering from CatSper, PLZ, SCZ1 mutation then ICSI or enhance ICSI will overcome infertility. If you’re talking about inherited diseases, in Britain, we screen all babies for diseases like Phenylketonuria and which is an enzyme in the brain. If a baby is found to have PKU, they are put on a vegan diet and have a normal life. If they don’t adhere to a vegan diet, then they get irreparable mental retardation. That’s a good example of genetics intervening and having a really happy ending to the story. There is gene therapy that is working for persistent fibrosis. There are new drugs for cystic fibrosis. They’re all coming up with new treatments. In China, if a woman is missing a particular gene that causes pre-implantation failure, they’re injecting the RNA of that gene much like the Pfizer vaccine. They inject the RNA sequence of the missing gene into the ovum. They’ve had success with that, it has improved the implantation, and they have gone on to have a child. It might take a while to get approved, but the more we know, the more chances and ingenious ways of overcoming these things. It’s the same with COVID-19, messenger RNA vaccines before, these are all brand new, but they’re saving lots of people from dying from COVID-19. So the same technology can be applied to infertility.

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