BAR HARBOR — Ewelina Bolcun-Filas Ph.D., who studies the genes and processes involved in the development of healthy eggs and sperm, has joined The Jackson Laboratory faculty as an assistant professor.
“Many genetic and environmental factors have been linked to reproductive disorders such as infertility, birth defects or premature ovarian failure,” Bolcun-Filas said. “The overall goal of my research is to understand the molecular mechanisms controlling the development of healthy gametes – egg and sperm cells – and how misregulation of these mechanisms can lead to reproductive disorders.”
The Polish-born Bolcun-Filas earned her master’s in biology-genetics from Jagiellonian University in Krakow, Poland. After completing her doctorate in developmental biology from the Georg-August-Universität, Institut für Humangenetik in Göttingen, Germany, she held a postdoctoral fellowship at the MRC Human Genetics Unit in Edinburgh, United Kingdom. She comes to JAX from Cornell University, where she has been a postdoctoral associate and research scientist in the laboratory of Professor John Schimenti Ph.D., himself a JAX adjunct faculty member.
Bolcun-Filas joins a JAX faculty with a legacy of excellence in developmental and reproductive biology research, including Eva Eicher’s foundational work in sex determination and John Eppig’s studies of the mammalian egg. Today, JAX Vice President for Research and Professor Robert Braun and Senior Research Scientist Mary Ann Handel study the genetics of sperm formation, and Professor Ken Paigen investigates genetic recombination.
Braun said, “Ewelina’s work combines innovative approaches to understanding meiotic quality control with new ideas for preventing infertility in women undergoing cancer treatments. She is a terrific addition to JAX and the Bar Harbor campus.”
“The long history of reproductive biology research, world-renowned specialists and great genetic and genomic resources make JAX an ideal institution to start my independent career,” Bolcun-Filas said.
“In particular, I am interested in meiotic ‘quality checkpoints’ operating in germ cells, which ensure that the correct and intact genetic information is transmitted to the next generation. Developing germ cells have to endure an enormous amount of programmed DNA double-strand breakage during meiosis in order to properly segregate chromosomes to haploid gametes. Remarkably, healthy germ cells are very proficient in DNA damage repair and fix all the meiotic breaks.”
However, she noted, in female cancer patients, these meiotic checkpoints also have undesired consequences for the survival of egg precursor cells known as oocytes, and thus for fertility. “Chemo and radiotherapy induce DNA damage that is lethal to fast-dividing cancer cells but tolerated by healthy cells. Unfortunately, oocytes in the ovary are highly sensitive to induced DNA damage due to still-active meiotic checkpoints. So those therapies often cause oocyte death, leading to premature ovarian failure and infertility.”
Together with her colleagues at Cornell University, Bolcun-Filas identified a pathway responsible for the elimination of oocytes exposed to ionizing radiation. “Female mice lacking a gene involved in killing damaged oocytes maintained their fertility, in contrast to wild-type females, which became infertile soon after radiation.” This finding offers potential therapeutic possibilities for women at risk of losing their fertility due to cancer treatments, she said.