Emerging Leaders in STEM Scholarship

“Six out of nine.” When I saw a rheumatologist for my joint pain, an affliction that had been plaguing me for several years, she instructed me to sit on the exam table and bend my joints to assess my Beighton score. She stated that a score above 5 was abnormal. 6 out of 9. The room went silent. The rheumatologist declared that I had hypermobility, diagnosing me with a connective tissue disorder. She explained that I couldn’t do physical activity that required repetitive movements, and my joint aches would be chronic. At that moment, I realized I’d have to quit activities I had dedicated years of my life to. I could no longer express myself through dance, playing the violin, or doing Taekwondo. I couldn’t help thinking about how much I’d suddenly lost. Where would I go from here? Despite my physical impairments and the many transformations my life has gone through since the diagnosis, by looking at my setbacks as opportunities, I was able to overcome them and grow as a person. I took the opportunity of no longer being able to do taekwondo or dance to instead take up something a little more friendly to my impairment - programming. I fell in love with Computer Science, despite not seeing much representation of disabled women like me in coding. I grew intrigued by both the challenges programming presented, as well as the various influences it had outside of just technology, impacting all kinds of disciplines and solving many diverse complexities. I found it vital as a disabled woman with a genetic disorder to use my perspective to utilize programming and Computer Science not only to make a difference but to be the representation women like me want to see. During a discussion about gene therapy, my biology teacher brought up bioinformatics: a field combining biology and computer science. She discoursed novel variant calling research, where an individual’s genome was compared to a reference genome, potentially finding predisposing mutations. My eyes grew wide as I recalled that moment in the rheumatologist's office, the words "six out of nine" echoing in my head endlessly. The uncertainty I felt at hearing that my condition had no known cure, no known mutation rushed back into me. Like me, millions face uncertainty and loss at being diagnosed with a genetic disorder, as many have no effective treatment. Many like me are forced to rebuild their lives, faced with the reality that their condition will never be cured. But with variant calling, we could finally receive closure and potentially a cure. It was clear to me that this was how I needed to use my programming skills to create change. Intrigued by bioinformatics, I first applied my existing programming skills to more simple biological information. I researched algorithms that compare baselines to abnormal biological signs. I then developed a machine-learning algorithm to identify lung cancer risk from biological indicators. Through this project, I became fascinated with the multidisciplinary aspect of Bioinformatics, combining Computer Science, Statistics, and Biology to consider an issue from various perspectives, cementing my interest. I plan to study computer science, focusing on bioinformatics, to potentially identify and remove genetic disease-causing mutations with programming, giving those of us with genetic maladies some hope from the life sentence a genetic condition can feel like. I will one day be the representation for women like me to see that our disabilities don't define us. We do. Our minds do. Our bravery and persistence do.