04183 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes

from an HCP family in Wellington, New Zealand with high penetrance, recurrent attacks and severe complications who has successfully undergone pre-implantation testing for a monogenetic disorder (PGT-M) and embryo selection for her first planned pregnancy to avoid passing the genetic variant to future generations.We argue that although ART should not be used routinely in AHP, it should be considered in cohorts with high prevalence or evidence of significant impact on health or quality of life.We discuss both the clinical and ethical issues associated with embryo selection in AHP.We also provide costings of the recurrent admissions to hospital for presentations associated with AHP in this family as well as the cost of the tax-payer funded ART.We are not aware of other published reports of embryo selection in AHP and hence this case represents an opportunity to discuss a rare management strategy that may benefit severely impacted families in other countries.