Abstract: Autism spectrum disorder (ASD) is a genetic neurodevelopmental disorder characterized by communication deficits, abnormal social interests, and restricted and repetitive behaviors. Whole exome sequencing in families with children affected with ASD revealed homozygous, recessive mutations in candidate genes including the E3 ubiquitin ligase UBE3B. Biallelic loss of function mutations in UBE3B cause a severe intellectual disability syndrome, Kaufman Oculocerebrofacial Syndrome (KOS). UBE3B is ubiquitously expressed throughout the body, with high prevalence in the nervouse system, specficially the cortex and cerebellum. The mechanisms underlining KOS and the UBE3B substrates that mediate them are not entirely understood. In this study, we aim to understand the UBE3B interaction with its candidate substrates, including calmodulin, calcineurin, and two mitochondrial import receptor subunits, Tom70 and Tom20, in primary neurons. Specifically, the changes in protein expression levels and interactions in response to neuronal depolarization.
What Does Research Mean to You? To me, research means taking a chance on changing the world. Unlike many professions, research is based on failing 101 times and not losing hope to try the same thing for the 102nd time. Though wanting to give up, frustrated, exhausted, confused, being able to persevere and repeat that same experiment yet another time gets you one step closer to understanding something new. The amount of dedication and sacrifice, the ups and downs, the tears, the sleepless nights that never seemed worth it, all that pain and exhaustion disappears at the sight of successful results. That adrenaline rush that comes when you discover something, even the slightest thing, makes everything worth it. It's not about making breakthrough discoveries every day. It's about learning, growing, and challenging yourself in ways you never thought imaginable, all for the sake of a question you so desperately, and passionately want answered.
Tell Us About Your Journey I decided I wanted to do research after I interned at an Applied Behavioral Analysis clinic my junior year of high school. During my internship, I began to question why we seek behavioral therapy to alter and cope with individuals on the spectrum when the root cause it's the behavior itself, but rather the brain. I began my freshman year at UTD as a Neuroscience major in hopes to pursue research in autism focusing on the neurological aspects of the disorder. I joined Dr. Kilgard's Neural Plasticity lab my freshman year and that was my first step in research. I learned a lot of techniques, but I wanted to challenge myself more and see if I was truly willing to go through the highs and lows, mainly lows, that are the essence of research. I was selected to be a 2019 GreenFellow and I worked with Dr. Maria Chahrour focusing on autism genetics. I had never taken an actual genetics course in my life, so the first few weeks were filled with A LOT of reading. I found myself on what was probably the steepest learning curve I had ever faced. Scared, exhausted, frustrated, I doubted myself and my ability to pursue this as a career. That's where perseverance came in. Despite everything, I kept finding something inside of me that pushed me to keep going. That's when I was sure my passion was in autism research. No matter how many times my experiment failed, I was always eager to repeat it again and again and again. I spent a large majority of my weekends in lab, not because I had to, but because I simply couldn't wait to try again. My journey is still long, but I know I'm drive by passion and dedication, and I can't wait to see where that takes me.
Advice For Future GreenFellows
Self-care, self-care, self-care! It's very easy to get overwhelmed in research, especially the GreenFellows Program. You only have 4 short months, you're most likely not going to have a breakthrough discovery, and that's okay! It's very easy to lose yourself in the stress. No matter how busy you get, never neglect your health; emotional, mental, and physical. Taking care of yourself is the first step in any procedure you do. Once you stop taking care of yourself, you will stop achieving your full potential. It's okay to take the weekends off, it's okay to tell your PI when you don't understand something or when you're starting to get really overwhelmed. Also, remember that this opportunity is not a commitment to research. You could very well absolutely hate being behind a desk or a bench all day, and that's okay. The GreenFellowship isn't made to force you to love research, it's purpose is to help you explore it further and help you decide if this truly is your passion or not. Lastly, GO TO SOCIALS! Hang out, eat lunch, and talk to your other fellows. You're all in this together, and they're your best support system. Best of luck!