FIB’s mission is to encourage, enable, and support research aimed at alleviating human infertility, uncovering new possible pathways to control fertility, and expanding fundamental knowledge of processes that underlie human reproduction. To this end, FIB funds basic, clinical, and translational studies to enhance our understanding of normal reproduction and reproductive pathophysiology, as well as to enable the development of more effective strategies for the diagnosis, management, and prevention of conditions that compromise fertility.
Human Infertility Allele Database . This NICHD-funded resource lists experimentally validated benign and deleterious single nucleotide polymorphisms in genes associated with human infertility (site works best in Firefox and Chrome).
Some recent findings from FIB-supported researchers include the following:
- Genetic regulation of hypothalamic-pituitary-gonadal axis controls menstrual cycle length. Characteristics of the menstrual cycle, including its length, are an important index of a woman’s reproductive health. Dr. Stephanie Seminara and her colleagues performed a meta-analysis of genome-wide association data on menstrual cycle length in 44,871 women of European ancestry, and they confirmed menstrual length is partially controlled by the follicle-stimulating hormone beta subunit (FSHB). They also identified four additional novel signals in, or near, the genes encoding GNRH1 (gonadotropin-releasing hormone 1), PGR (progesterone receptor), NR5A2 (a nuclear receptor involved in cholesterol metabolism), and INS-IGF2 (isoform 2 of insulin) that contribute to the length of a menstrual cycle. These findings confirm the role of genetic variation in the hypothalamic-pituitary-gonadal axis in regulating of menstrual cycle length, and also identify potential novel local regulatory mechanisms. (PMID: 30202859)
- Primate born using sperm from frozen juvenile testicular tissue. Cancer treatment can spare a young boy’s life, at the cost of his future fertility. Currently, no options exist for fertility preservation for boys who are too young to produce sperm. Dr. Kyle Orwig and his colleagues grafted cryopreserved testicular sections taken from juvenile rhesus macaques back into the original donors after puberty. The grafts grew and made testosterone and sperm, which in one case resulted in a successful pregnancy and live birth. This is the first proof that immature testicular tissue can be preserved and used later to restore fertility. (PMID: 30898927)
- New factors identified in ovarian primordial follicle survival. Work from Dr. Joan Jorgensen’s laboratory shows that expression patterns of transcription factors Irx3 and Irx5 are critical in establishing the connections between oocytes and their surrounding somatic cells during primordial follicle formation. Defects in this patterning disrupt communication between the two cell types and result in oocyte death, potentially shortening the span of a woman’s fertile reproductive years. (PMID: 30071018)
- Epigenetic changes in ADAMTS linked to preterm birth. Dr. Mainigi and colleagues studied placentas from a population of women at high risk for preterm birth. Their research showed that regulation of methylation levels of members of the gene family ADAMTS, implicated in cell invasion and migration, is important in regulating early placentation and later susceptibility to preterm birth. (PMID: 30239759)
- Major depression and antidepressant use affect male and female fertility. A study of major depression in couples with infertility showed that currently active major depression in infertile men can lower chances of pregnancy, and use of non-selective serotonin reuptake inhibitor antidepressants in infertile women could be linked to first-trimester pregnancy loss. (PMCID: PMC5973807)