Women who want to conceive after the age of 35 have been warned that egg quality may decline and the risk of miscarriage may increase. But for some, the decline can begin up to 10 years ago, too late to consider other options.
Could the solution be a simple genetic test that requires just a few drops of blood? That’s what Rutgers University medical student Leela Biswas hopes. her research on the topic.
A Widener College graduate who grew up in Voorhees, Biswas won a $10,000 prize in an AMA Research Challenge for discovering a genetic mutation that may be responsible for why some eggs have the wrong chromosome number. .
More research is needed to translate her findings into blood tests, but she envisions that one day people will be able to screen for variants long before they think about pregnancy. positive, the eggs can be frozen before they start to deteriorate, or other options such as in vitro fertilization can be considered.
“The idea is to empower women with their genetic information so that they can make informed decisions about their fertility,” she said.
Biswas defeated nearly 1,200 other entrants in the competition, which is open to medical students, residents, fellows, and graduates of international medical schools. She is in the middle of a dual degree program and is training to become a physician at Rutgers Robert Wood Johnson Her School of Medicine while earning her Ph.D. In the lab of Karen Schindler, associate professor at the New Jersey Institute of Human Genetics.
“Leela’s approach is a testament to her curiosity and creativity,” Schindler said.
Biswas has wanted to be a doctor for as long as he can remember.
At the age of 7, she accepted her first patient. This is Aina, her family’s Doberman mix. Aspiring clinicians carefully examined the dogs, looking for calluses that had formed on their elbows.
“I was really fascinated by it,” she said. “She was very patient.”
Biswas graduated from Eastern Regional High School in Voorhees, where his extracurricular activities included volunteering with medically vulnerable children at a nearby residential facility. She majored in biochemistry at Widener, while working in her Kimmel Cancer Center lab at Jefferson University, Sydney.
At Rutgers University, Biswas will complete two years of medical school and a Ph.D. In 2024, before completing an MD degree in the next two years.
Egg research began in the lab of Rutgers University computational biologist Jingchuan Singh. He identified 1,488 of his genetic mutations that were more common in fertility clinic patients than in the general population. From the total number, he sorted into nine subspecies that seemed likely to be involved in egg development.
Biswas et al. then tested each of the nine mutants in a laboratory dish, injected genetic material into mouse eggs using a small needle, and found that one mutant of a gene called KIF18A was mistaken in the egg. It was found that they seem to have a number of chromosomes. Associated anomaly.
Then it’s time to test that variant across mice. Biswas used CRISPR gene-editing technology to create mice with the variant, but sure enough, nearly half of those eggs had the wrong number of chromosomes. The condition is called aneuploidy and is the leading genetic cause of miscarriage in humans.
Upon further examination, Biswas found that some of these poor-quality mouse eggs contained defects in delicate structures called spindles. The mitotic spindle normally serves as a scaffold for chromosomes.
“I think it’s like lining up a bunch of soldiers,” she said. “They have to be in the right place.”
These spindles, on the other hand, were a mess.
Next steps include lab experiments to determine exactly how this mutant disrupts egg chromosomes. Rutgers’ team also hopes to identify more patients with this gene mutation and monitor those who attempt to conceive.
Biswas continues to participate in research, but has to move on before an over-the-counter blood test becomes available. Her final two years of medical school await.
She has not yet decided which branch of medicine she wants to practice. She has potential in reproductive medicine, but she also has interests in cancer medicine and other fields where a patient’s genetic information can be used to determine personalized treatment, she said.
“Thirty years ago, you couldn’t open someone’s genome and tell them what was going on at the molecular level in the body,” she said. “As these disruptive basic scientific advances occur, I want to be able to take from them and translate them into the clinic.”
