Male Infertility Genetics Laboratory

Our NIH funded laboratory has received generous support from private foundations and donors. Their significant contributions allow us to better understand male infertility, reproductive medicine and other urologic conditions.

Our research focuses on:

  • Identifying the molecular basis for male infertility
  • Preserving fertility in Klinefelter syndrome and other genetic disorders
  • Finding the role small RNAs play in regulating testicular function and prostate cancer

Male infertility is common and affects up to 3% of men in the general population. Sperm is produced in the testes from spermatogonial stem cells (SSCs), the "grandfather of sperm." Self-renewal of SSCs and commitment toward further divisions is regulated by complex interactions between germ cells and Sertoli cells.

There are different types of male infertility:

  • Hypospermatogenesis: production of sperm is present, but numbers are low
  • Sertoli cell only syndrome: SSCs which are believed to be lost
  • Maturation arrest: SSCs division arrest after entry into meiosis

It is believed that most forms of male infertility are yet to be known because of various genetic defects. Our laboratory is on the forefront of identifying such genetic reasons for male infertility, hoping that better understanding the biology of male infertility will allow us to further develop new diagnostic and therapeutic options for men with this condition.

Key discoveries made in our laboratory:

  • SSCs are present in men with severe forms of infertility
    • For decades others believed that men who had Sertoli cell only syndrome lacked stem cells
    • Our research showed that SSCs are present and increase in number because they are not able to divide further
  • Abnormal levels of GDNF (molecule released from Sertoli cells) may be responsible for Sertoli cell only syndrome
    • We are currently evaluating whether the delivery of GDNF will stimulate SSCs towards normal divisions and sperm production
  • Small RNAs regulate spermatogenesis and prostate cancer key regulators of cell function and play a role in diagnosing different disorders
    • We anticipate on starting a new clinical trial where we deliver small RNA to treat male infertility

The lab is supported by two outstanding senior research associates: Anna Mielnik, M.Sc. and Alexander Bolyakov M.C.Sc.

Alexander Bolyakov analyzes data in the lab