Better Testing for Endometriosis
Fall 2023 1st Place Winner
by Kelaney Stalker, Studying Genetics
Growing up, I hated taking medicine. Swallowing pills seemed physically impossible, so I chewed them and chugged water. I can swallow pills now, but my intimate familiarity with their chalky bitterness has made it so I only take medicine when I have to. When I feel monthly cramps begin beneath my belly button, I take ibuprofen without a second thought. I tell my brothers that having a period feels like you swallowed a live piranha and now it’s trying to chew its way out through your intestines. My friend Cassidy lies in bed for five days each month. She describes her period as an explosive, causing her body to tear itself apart. My period is uncomfortable; hers is debilitating. She has endometriosis.
Around 10% of reproductive-aged women globally have endometriosis, a condition in which tissue similar to endometrial tissue (the inner lining of the uterus) grows in alien locations. This tissue behaves as it would in its original position, thickening, bleeding, and sloughing with each menstrual cycle. Endometriosis is most commonly found on the outside of the uterus, ovaries, or fallopian tubes, but can also be found in the gastrointestinal or urinary tracts. Cassidy was diagnosed when she had her gallbladder removed. The organ was covered in endometrial lesions. When Cassidy was trying to understand her painful menstruation, she was told she had IBS. The changes to her diet, meant to ease irritable bowels, had no effect on her symptoms. Since the only way to definitively diagnose endometriosis is through a surgical laparoscopy, misdiagnosis is common. But even when surgery is recommended, insurance will only cover this procedure after a woman presents with her symptoms for over a year.
Cassidy was diagnosed by accident. I believe there is a better way. I work in a lab that studies how our bodies change gene expression without changing the sequence of our DNA, a field called epigenetics. In particular, I study methyl marks, molecules made of a carbon and three hydrogens that attach themselves to our DNA. Every cell in our body has the same sequence of DNA within it, but each tissue uses different parts of the DNA, causing the tissues to behave very differently from one another. Methylation is one of the tools our bodies use to designate DNA use. Using methylation, we can not only tell where in the body the DNA originated, we can also tell the health of the tissue the DNA is derived from. I want to use methylation to diagnose endometriosis in a blood sample. My study is in the early stages, but I have found areas of methylation unique to endometriosis and have received approval to start collecting samples. Many problems I want to solve feel out of my reach, but this is a problem I have the power to solve. I want to provide a conclusive, inexpensive, and noninvasive test for endometriosis. This will provide women with answers, doctors with options, and me with an opportunity to change the world.