Advances in Developmental Genetics and Achievements in Assisted Reproductive Technology

Abstract

Experimental embryology achievements in the century resulted in the birth of the first child conceived artificially. Besides its obvious social significance, the successful solution of the “test-tube babies” provided also the unique chance for direct inspection of human embryos growing in vitro at their earlier stages. New technologies applied for human gametes and earlier embryos studies, combined with high resolution capacities of modern cytogenetic and molecular methods, helped a lot in elaboration of efficient algorithms for assisted reproductive technologies (ART) and also provided a solid background for illumination of many genetic problems of human development before implantation. The later include input of chromosome aberrations and genome imprinting in pathology of early human development, cytogenetic and molecular mechanisms of the primary embryonic differentiation, genome epigenetic changes from fertilization through cleavage and blastulation, and identification of genes responsible for early development and differentiation. Conspicuous achievements in ART also include the creation of three parental embryos as a new step for the treatment of mitochondrial diseases, elaboration of karyomapping technique amenable for the diagnostics of both chromosomal and genetic pathology, and participation of paternal mitochondria delivered by the sperm in human development. A new era in human development genetics and ART was recently mitigated by the genome editing technique. The necessity of strict regulations for the safe implementation of genome editing in human embryonic development has been stressed. The areas of special attention include all studies of genome editing, production of artificial gametes, growing of chimera embryos for the purposes of organ and tissue transplantation, etc. Conspicuous delay of Russian science in the field of human developmental biology and experimental embryology and the necessity of its urgent support from both the fundamental sciences and clinical medicine have to be stressed.