Fertility and Infertility Branch (FIB)

Fertilization

Overview/Mission

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 typical 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 male and female fertility.

  • Researchers: RMN data is now available in NICHD's Data and Specimen Hub (DASH)
  • University of Virginia Ligand Assay and Analysis Core external link: Provides high-quality and cost-effective assay services
  • Trans-NIH Strategic Plan for Women’s Health Research: This 5-year plan highlights a multipronged pathway to advance a vision in which sex influences are integrated into the biomedical research enterprise; every woman receives evidence-based disease prevention and treatment tailored to her own needs, circumstances, and goals; and women in science careers reach their full potential
  • Human Infertility Allele Database external link: This NICHD-funded resource lists experimentally validated benign and deleterious single nucleotide polymorphisms in genes associated with human infertility
  • Interlome Gene List external link : This gene variant database presents NICHD-funded research on pathogenic variants of human genes that are associated with fetal lethality, spontaneous pregnancy loss, recurrent pregnancy loss, intrauterine fetal demise, stillbirth, and neonatal mortality.
  • Recurrent Pregnancy Loss Data Sets external link: This -omics data repository presents NICHD-funded research on recurrent pregnancy loss. It integrates genetic, clinical, and molecular phenotypic data to discover novel genes and genetic variants that contribute to pregnancy loss and to improve prediction of the loss.
  • Teede, H. J., Misso, M. L., Costello, M. F., Dokras, A., Laven, J., Piltonen, T., Normal, R. J., and the International PCOS Network. (2018). Recommendations from the international evidence-based guideline for the assessment and management of polycystic ovary syndrome. Clinical Endocrinology, 89, 3 251–268. PMID: 30024653.

  • Daniel Johnston, Acting Branch Chief
    Main Research Areas: Epididymis; sperm; testis; contraception
  • Susan Taymans, Deputy Branch Chief and Program Director
    Main Research Areas: Genetic and epigenetic control of early germ cell development and meiosis; fertility preservation; ovarian function and dysfunction; primary ovarian insufficiency; fertility status and overall health; sex determination and differentiation (in the context of fertility and infertility); training for graduate students and postdoctoral fellows in reproductive health
  • Clara Cheng, Program Director
    Main Research Areas: Trophoblast development and differentiation; early placental formation; female reproductive tract (oviduct, uterus, vagina); uterine function and implantation biology; implantation-based early pregnancy loss; interplay of immune and endocrine systems in blastocyst-uterine interaction
  • Emily Jay, Staff Assistant
  • Travis Kent, Program Officer
    Main Research Areas: Spermatogenesis; testis biology; sperm function; male reproductive tract (including epididymis and seminal vesicles); semen content; fertilization; sperm/semen contribution to offspring fitness; NCTRI
  • Ying Liu, Program Analyst
  • Ravi Ravindranath, Program Director
    Main Research Areas: Totipotent and pluripotent stem cells; embryonic and induced pluripotent stem cells; reprogramming; oocyte quality and developmental competence; genetics and epigenetics of preimplantation embryo; reproductive neuroendocrinology; gonadotropins; metabolic signals and reproduction; reproductive behavior
  • Aritro Sen, Program Officer
    Main Research Areas: Reproductive medicine and infertility; infertility and disease disorders; assisted reproductive technology; strategies for diagnosis and management of infertility; polycystic ovary syndrome; training of clinical scientists in reproductive health; Small Business Innovation Research/Small Business Technology Transfer

Highlights

Road to Prevention of Stillbirth Requests for Applications (RFAs). NIH has published two RFAs to fund research centers and a data coordinating center that will form an integrated and collaborative Stillbirth Research Consortium. This consortium will support stillbirth-relevant basic, translational, clinical, and/or data sciences research across the United States, with a particular emphasis on ways to decrease the incidence of stillbirth in vulnerable populations. 

Uterine Fibroids and Women’s Health. Learn about NICHD support of research on uterine fibroids and women's health, and review some recent advances in understanding, diagnosing, and treating them.

Assisted Reproductive Technology (ART) and Women's Health. Learn about NICHD support of research on ART and women's health, and review some recent advances in advancing ART methods, achieving optimal conditions for ART, and understanding its long-term effects.

Polycystic Ovary Syndrome (PCOS) and Women's Health. Learn about NICHD support of research on PCOS and women's health, and review some recent advances in understanding, diagnosing, and treating this condition.

Infertility and Women's Health. Learn about NICHD support of research on infertility and learn about some recent advances in understanding, diagnosing, and treating this common condition in males and females.

Endometriosis and Women's Health. Learn about NICHD support of research on endometriosis and learn about some recent advances in understanding, diagnosing, and treating this common gynecologic condition.

Get to Know NICHD! Learn more about what inspired FIB Acting Chief Dr. Daniel Johnston and Program Officer Dr. Travis Kent to pursue science and how their decisions and experiences led them to their careers with NICHD.

Workshop on Idiopathic/Non-Aneuploid Early Pregnancy Loss (EPL): The State of the Science. This workshop, held July 22-23, 2021, included discussions of knowledge gaps, barriers to advancing the science, promising approaches, and needed tools for EPL research. Access recordings from Day 1 and Day 2, or the workshop program (PDF 160 KB) for additional information.

Physiomimetics and Organoids for Reproductive Health. This workshop, held September 23-24, 2021, focused on physiomimetics, sometimes called “organs-on-a-chip,” and organoids, and applications of these technologies for reproductive health research. Access recordings from Day 1 and Day 2, or the meeting summary (PDF 469 KB) for additional information.

 

Advancing Bioprinting and Regenerative Medicine Solutions for Obstetric, Gynecologic, and Pediatric Applications Workshop. This workshop, held November 16-17, 2021, was a transdisciplinary discussion on the state-of-the-science of tissue-construct manufacturing using 3D printing of biological, cellular, and tissue-based products (a.k.a., bioprinting) and regenerative medicine in the context of obstetric, gynecologic, and pediatric applications. Access recordings from Day 1 and Day 2.

Some recent findings from FIB-supported researchers include the following:

  • Gene variant involved in genome integrity and male infertility. Even though male infertility affects millions of couples, the cause of primary infertility in males remains largely unknown. In a genomic study of spermatogenic failure, FIB-funded scientists from the GEnetics of Male INfertility Initiative identified single nucleotide variants (SNVs) in germ-cell nuclear antigen (GCNA), a gene on the X chromosome critical for genome integrity in male meiosis. All the identified SNVs had an extremely low minor allele frequency in the general population but were found in 7 men with spermatogenic failure in the cohort of approximately 2,200 participants. Five identified SNVs occur in key functional regions, suggesting that they disrupt structure and function of the GCNA protein, ultimately arresting germ-cell division. This is the first study implicating GCNA, a key genome integrity factor, in human male infertility. (PMID: 33963445)
  • New in vitro system for mammalian meiosis. Despite conservation from yeast to humans of the chromosome structures and the fundamental molecules involved in meiosis, the trigger for meiosis differs across species, and for humans, is still unknown. In yeast, nutrient deprivation triggers meiosis; in mammals, retinoic acid (RA) and its downstream targets, while necessary for meiosis, are not sufficient to trigger it. This knowledge gap prevented scientists from initiating mammalian meiosis and spermatogenesis in vitro. In this FIB-funded study, Dr. Ning Wang and colleagues showed that nutrient deprivation plus RA, but neither alone, induced meiosis in primary mouse spermatocytes cultured without somatic cells. The combination induced both the expression of meiosis-specific genes and DNA double strand breaks. Switching these induced cells to a "meiotic progression" medium allowed them to develop to the early pachytene stage, and to form chromosomal synapses. Transcriptomic analysis of the nutrient-deprived cells identified 11 transcription factor genes that were upregulated, and associated with early meiosis in vivo, independently of RA. In addition to identifying key players in meiotic initiation, this work also establishes a valuable in vitro system for studying meiosis and producing male haploid gametes. (PMID: 33741948)
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