research group

Reproductive genetics

Main research area of the group

Reproductive medicine

Leading researchers

Prof. Savina Hadjidekova, PhD, MD /Savina Agova

Medical Faculty, Department of Medical Genetics, MU – Sofia

Members of the research team:

Senior Assist. Prof. PhD Rada Staneva, MD; Senior Assist.
Prof. PhD Olga Antonova; Senior Assist. Prof. Victoria Spasova, MD, PhD; Senior Assist. Prof.
Sena Karachanak-Yankova, PhD; Head Assist. Prof. PhD Dragomira Nikolova; Assist. Prof.
PhD Vera Damyanova; Marta Mihaylova-Hristova, Chief Assist. Prof. Master of Human
Medicine, Molecular biologist, Blaga Rukova-Kuncheva, PhD; Biologist, PhD Dimitar Serbezov;
Georgi Stamenov, PhD; Dimitar Parvanov, PhD

Research goals

The primary aim of the study is to determine the genomic profile of early arrested embryos and abortions and their parents to find genetic variants related to the etiology of preimplantation embryo arrest and recurrent early pregnancy loss. The identification of specific causative pathogenic genetic recessive variants will help to improve the management of coupes with reproductive failures. Secondary goals include the creation of biobanks of: 1) trios DNA samples (embryo-parental DNA and abortion-parental DNA); 2) culture medium samples for future embryo secretome, metabolome, proteome, mirnome etc. analysis. Secretome analysis of culture medium, in which the embryo develops, represents a non-invasive approach to assess the quality and competence of the embryo. A significant proportion of early embryonic arrests are due to aneuploidies. However, a large percentage of euploid embryos still fail to implant. Therefore, studies on the possible single gene defects involved in early embryonic arrest, implantation failures and early pregnancy loss are required. We expect to reveal new, previously unreported rare genetic variants, which could be included in open-access international databases and which can contribute to further research on this topic. We expect to elucidate the mechanisms of reproductive failure in a significant proportion of patients and the obtained data could contribute to the broadening of the spectrum of etio- pathogenic causes of infertility and unsuccessful in vitro procedures. The ultimate goal of the project is to apply the results in clinical practice to help delineate more precise sub phenotypes of reproductive failure and thus offer precision medicine-driven management of couples with idiopathic infertility. In the future, the findings could also be used for the identification of effective targets and the design of new therapies. This will pave the way for personalized reproductive healthcare.