Early diagnostic, treatment and prevention through a new gene panel for screening of woman with low egg reserve

Approximately 10-20% of women undergoing fertility treatment have low egg reserves, making conventional hormone stimulation treatments largely ineffective. These women face only a 5-10% chance of conceiving per treatment cycle, leading to significant financial and emotional strain. However, research suggests that about half of these women could be genetically screened early to identify the root causes of their diminished egg reserve.

Objective

This project aims to develop a gene screening panel capable of early identification of egg reserve loss, enabling personalized fertility interventions. By detecting genetic markers associated with low egg reserves, clinicians can provide better-informed treatment strategies while allowing women to explore fertility preservation options before their reproductive potential declines further.

A major component of this initiative is the RUBIC biobank, which contains genetic data from 300 women with low egg reserves or poor egg development, alongside 300 women with normal egg reserves. This dataset will be used to sequence relevant genes and compile a clinically useful genetic screening panel.

Potential Impact

Despite the promise of genetic screening, there is currently a lack of gene panel providers offering solutions tailored to fertility care. By addressing this gap, this project paves the way for more effective, science-driven fertility treatments that could reduce unnecessary hormone treatments and increase success rates for women with reproductive challenges.

This project will be instrumental in advancing research and translating findings into clinical applications that improve patient outcomes.