People who want to become pregnant after the age of 35 are warned that the quality of their eggs may have deteriorated, which increases the risk of miscarriage. But for some, the decline can start a decade early, and they don’t realize it in time to consider other options.
Could the solution be a simple genetic test that requires only a few drops of blood? That’s the hope of Rutgers University medical student Lila Biswas, who just won an American Medical Association competition for her research on the topic.
Pessoa, a Widener University graduate who grew up in Voorhees, discovered a genetic variant that appears to play a role in why some eggs have the wrong number of chromosomes, and won first prize of $10,000 in an AMA Research Challenge.
More study is needed before her findings can be incorporated into a blood test, but she envisions that one day people could be screened for the variant long before they even consider pregnancy. If they test positive, their eggs can be frozen before they begin to deteriorate, or they can consider other options such as in vitro fertilization.
“The idea is to empower women with genetic information so they can make informed decisions about their fertility,” she said.
Biswas outperformed nearly 1,200 other entrants in the competition, which is open to medical students, residents, fellows, and graduates of international medical schools. She’s in the midst of a dual-degree program, training to become a physician at Rutgers Robert Wood Johnson Medical School while earning her Ph.D. In the lab of Karen Schindler, associate professor at the Institute of Human Genetics in New Jersey.
“Lila’s approach is a testament to her curiosity and creativity,” Schindler said.
Biswas said she has been keen to become a doctor for as long as she can remember.
At the age of seven, she saw her first patient: Dobermann’s family, Aina. The ambitious doctor carefully examined her dog, examining the calluses that had formed on the elbows of the animal.
“I was really impressed,” she said. “She was very patient.”
Biswas graduated from Eastern Regional High School in Voorhees, where her extracurricular activities included volunteering with medically vulnerable children at a nearby housing facility. Widener majored in biochemistry while working in a lab at Thomas Jefferson University’s Sidney Kimmel Cancer Center.
At Rutgers, Biswas has just finished two years of medical school, and is on her way to earning her Ph.D. in 2024 before completing a master’s degree in the two years following that.
The egg research began in the lab of Rutgers, computational biologist Jinchuan Xing, who identified 1,488 genetic variants that were more common in patients at a fertility clinic than in the general population. From that total, he distilled them into nine species likely to play a role in oocyte development.
Biswas et al. then tested each of the nine variants in lab dishes, using fine needles to inject genetic material into mice eggs, and found that one variant, in a gene called KIF18A, appeared to cause the eggs to contain wrong numbers of chromosome-related abnormalities.
Then it was time to test this alternative in a whole mouse. Biswas used CRISPR gene-editing technology to create mice with this variant, and nearly half of their eggs are sure to contain incorrect numbers of chromosomes. This condition is called aneuploidy, and it is the main genetic cause of miscarriage in humans.
Upon further examination, Biswas saw that some poor-quality mouse eggs contained defects in delicate structures called spindles, which normally serve as scaffolding for chromosomes.
“I think of it like lining up a group of soldiers,” she said. “They have to be in the right place.”
On the other hand, these spindles were in disarray.
The next steps include laboratory experiments to determine exactly how this variant disrupts the chromosomes in eggs. The Rutgers team also hopes to identify more patients with this genetic variant and monitor them while they are trying to conceive.
Biswas continues to participate in the research, but before it results in a commercially available blood test, she will have to move forward. Her last two years of medical school are waiting for you.
You have not yet decided which branch of medicine you want to practice. Reproductive medicine is a possibility, but she also said she’s interested in cancer medicine or another field where she can use a patient’s genetic information to determine personalized treatment.
“Thirty years ago, you couldn’t open up someone’s genome and tell them what was going on at the molecular level inside their body,” she said. “As those disruptive basic science advances happen, I want to be able to take them and translate them into the clinic.”