Novel Advances in Fertility Expertise in Latvia and Estonia (NOVAFERT)
Aim
Description
One in six couples, i.e. 15% of the couples at childbearing age are experiencing involuntary childlessness. Improved medical assistance for couples experiencing difficulty in conceiving could alleviate low fertility rates.
Infertility affects both genders, stemming from various causes. Women may face infertility due to complex diseases like endometriosis and polycystic ovary syndrome (PCOS), often linked to genetic factors. Premature ovarian insufficiency (POI), resulting in oocyte loss by age 40, affects 4% of women (Golezar S et al. 2019), often attributed to genetic mutations. According to Estonian medical data, male infertility can also be caused by various diseases, with severe male infertility, where sperm cells are absent or rare, affects 2% of all men, often caused by genetic mutations (Punab bet al 2017).
Infertility treatment is a complex and expensive procedure that considers the causes of infertility. The diagnosis affects treatment decisions and the choice of the right treatment protocol. Options are in vitro fertilization (IVF) with the couple's own or donor gametes, and preimplantation testing of embryos in the presence of genetic risks. Understanding the causes of infertility not only shapes the treatment protocol but also helps mitigate future risks of infertility-associated diseases and prevents the transmission of genetic issues to the next generation, emphasizing the importance of personalized care.
In the NOVAFERT project, two novel genetic tests for the identification of genetic determinants of female and male infertility will be developed. These molecular tests will provide a single test for infertility diagnostics, covering diverse gene and genome mutations from single nucleotide changes in genes to large structural chromosomal abnormalities (Volozonoka L. et al. 2022, Oud MS. et al. 2018). Knowing the exact genetic causes helps to tailor personalized infertility care for the couples, addressing the underlying genetic reasons and facilitating the choices such as whether to pursue IVF with own or donated gametes, embryo and/or fetal genetic testing, adoption, or any other family-building options. Moreover, individuals with identified infertility-causing genetic changes benefit from following counselling, by being provided with information about the inheritance pattern of the condition, potential risks to offspring, and available options for family planning.
The main beneficiary of the project will be the Ltd Celvia, whose portfolio of services these genetic tests would complement, providing more personalized infertility care. Currently, there is a lack of diagnostic tools to reveal genetic causes of infertility. Celvia contributes to the partnership its business and technology know-how, and international network of customers to help bringing the research outcomes into clinical use and commercial exploitation.
The novel genetic tests will be developed in collaboration with the academic partner RSU. As a public sector institution RSU is interested in sharing knowledge and offering its expertise to the industry thereby also expanding the value chain of its own services. RSU is a unique partner in the Baltic countries for the Celvia, with its extensive knowledge in medical genetics, genomics and bioinformatics, and unique previous experience in creating a prototype genetic test for infertility.
Beyond NOVAFERT, the project lays the groundwork for future collaboration and joint research and development activities between Celvia and RSU.
Activities of the project
- Solving ethics issues and establishing the study biobank for the reproductive tests.
- Establishing the prototypes for female and male infertility tests.
- Test validation and providing the guidelines for genetic counseling.
- Communication, dissemination and pilot commercialization of the project’s outcome.
Project partners
- Celvia (former Competence Centre on Health Technologies) as a lead partner (Tartu, Estonia)
- Riga Stradins University as partner (Riga, Latvia)
For more information on the Interreg VI-A Estonia-Latvia programme 2021-2027, click here.
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