What led you to a career in reproductive genetics?
During my Junior year in high school I had an inspirational Biology teacher, who taught with such a passion. I remember like it was yesterday her class describing Mendelian inheritance, DNA mutations and human genetic disease. It was at that moment, I realized I wanted to be a geneticist.
Then, when I was an undergraduate at the University of Melbourne in Australia, I worked with families that had children affected by genetic disease. At that time, I thought to myself, what if we could prevent these inherited genetic diseases from being passed on to the next generation? What if we could give these at risk families’ babies that are free of their inherited genetic disease allowing them to live out their lives to their fullest potential? This is what led me to the field of Reproductive Medicine and to pursue my PhD in Reproductive Genetics.
When and why did you start working with CCRM?
In 2003, I was speaking at conference in Montreal when Dr. Schoolcraft offered me the amazing opportunity to come work with him in Colorado. So my husband and I packed our suitcases and moved halfway across the world for me to take up the position to lead CCRM Genetics.
How has CCRM’s Genetics program changed over the years?
It started with just myself and has now grown to a dozen talented Genetics researchers and clinical scientists on our team. I am excited about what we are achieving today and even more excited about the research we have in the pipeline and what we will be able to accomplish in the years ahead.
What do you consider your greatest career accomplishment?
Pioneering comprehensive chromosome screening (CCS) has been a significant achievement. I recruited our first CCS patient in 2006 and since then, thousands of healthy babies have been in Colorado and tens of thousands across the world using the CCS protocol that we developed here at CCRM.
What is CCS?
CCS is performed in conjunction with in vitro fertilization in which several cells are biopsied/removed from a day 5 or day 6 embryo, also known as a blastocyst, and the chromosomes within the cells are counted. Chromosomally normal embryos are identified and either transferred into the uterus or cryopreserved/stored until the woman/couple is ready for pregnancy.
It is well documented in the scientific literature that chromosomally abnormal embryos result in implantation failure, miscarriage or an affected baby. With the introduction of CCS, live birth rates are age independent and 2 fold higher than unscreened embryos. CCS improves implantation rates, reduces miscarriages rates and improves the chances of a live birth following the transfer of chromosomally normal embryos.
Is there anything you’re currently working on now that you can tell us about?
An ongoing clinical study we’re excited utilizes a non-invasive CCS technique. Instead of removing cells from the embryos, we analyze the DNA in the culture media (the nutrient-rich solution required for embryos to grow) around the embryo. Since the embryo itself is not being biopsied, it eliminates any risk of embryo damage from the invasive biopsy technique. It’s also more cost-effective for the patient and more lab friendly, making it even more accessible and attractive to labs and patients.
What do you enjoy most about your job?
I absolutely love what I do, and I am so passionate about Reproductive Genetics. This field allows couples who are at risk for genetic diseases or are struggling infertility because of maternal age, to have healthy babies. We are able to give them the gift of family – there is nothing in the world better than that. It is a privilege and honor to be a part of their successes.