The Female Reproductive Genetics Initiative: let there be light.

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Supported by ESHRE, a new project, the Female Reproductive Genetics Initiative (FeRGI), has been launched within the Special Interest Group (SIG) Reproductive Genetics.

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This initiative is driven by recent progress in the field of infertility genetics and the need to translate this research into clinical practice. Over the past 15 years, significant advancements have been made in identifying non-syndromic infertility genes for both men and women. Now, it is imperative to translate this foundational research into clinical applications, particularly in diagnosis. To support this new endeavor, it is crucial to develop the necessary tools for training clinicians and biologists in reproductive medicine, genetic counseling, and creating a comprehensive database listing all genes and variants involved in female non-syndromic infertility phenotypes.

The team behind FeRGI comprises professionals in medically assisted reproduction (MAR), including basic and clinical scientists. They recently published a systematic review and evidence assessment of single-gene Gene-Disease relationships (GDRs) in human female infertility (Van Der Kelen et al., Hum Reprod Update. 2023). As this initiative is being developed within the Reproductive Genetics SIG, the steering committee also includes members within this SIG.

To make this new knowledge accessible, ESHRE and, more specifically, the Reproductive Genetics SIG, have agreed to host the FeRGI initiative. FeRGI’s primary mission is to empower reproductive medicine practitioners in female infertility genetics by providing the resources and expertise they need to support better diagnoses and to enhance their professional capabilities in this new domain. To achieve this, we are establishing an interactive website enabling clinicians and biologists to access information on all genes associated with female infertility and their links to related phenotypes (GDRs). Additionally, the database will include an online form for researchers to submit newly identified gene variants.

Beyond data compilation, FeRGI serves as a hub for global collaboration and knowledge exchange. FeRGI will also organize educational activities, including regular scientific meetings, webinars, ESHRE campus workshops, and interactive internet programs, aiming to foster collaboration among experts in the field, young specialists, scientists, PhD students, and post-docs from around the world. By connecting genetic and reproductive specialists globally, we aim to stimulate research in genetics of female infertility and encourage its clinical implementation. Our website will offer an overview of our mission, planned activities, publications, and genetic data.

Guided by ethical considerations, FeRGI will be responsible for developing a best-practice guide/recommendation document. By shedding light on the genetic landscape of female infertility, FeRGI aims to ensure that advancements in technology are met with thoughtful reflection, while enhancing diagnosis, treatment, and fertility preservation for patients and their families.

Join Us in Shaping the Future

Together with ESHRE and the SIG Reproductive Genetics, FeRGI is shaping the future of female reproductive medicine. Join us on our journey as we illuminate the path towards fertility and family-building through genomic insights.

References

Van Der Kelen et al 2023. A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development. Hum Reprod Update 29:218-232. doi: 10.1093/humupd/dmac044.

Verpoest W et al 2023. Genetics of infertility: a paradigm shift for medically assisted reproduction. Hum Reprod. 2023;38(12):2289-2295. doi: 10.1093/humrep/dead199.

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