The Young Investigator Draft presented by CSL Behring is the result of Uplifting Athletes’ ongoing commitment to cultivate resources that accelerate scientific advancements for rare disease treatments and potential cures while facilitating the next generation of rare disease researchers.
Learn more about the 2020 Young Investigator Draft and purchase tickets click here.
Researcher: Dr. Kathryn Hixson
Young Investigator Institution: University of North Carolina at Chapel Hill Catalyst for Rare Diseases
Education: Dr. Hixson graduated cum laude from Brigham Young University (BYU) with a BS in Neuroscience in 2011 and received her PhD in Neuroscience from Boston University School of Medicine in 2019.
Research: Dr. Hixson is studying Malan Syndrome, a rare genetic disease that was identified in 2010. It currently affects 150 patients worldwide with diagnoses occurring so rapidly that it is likely the disease is much less rare than we know. Symptoms include seizures, craniofacial features, musculoskeletal abnormalities and intellectual disability. The only treatments available are merely supportive and treat individual disease symptoms separately due to our poor understanding of what causes the disease. Dr. Hixson’s research intends to reveal, not only what is causing Malan Syndrome, but novel ways to treat it that may ultimately lead to a cure. In order to accomplish this, Dr. Hixson will create a stem cell line with the gene mutation that patients have, then characterize what is disrupted in those cells. Then she will perform a drug screen to find novel therapeutic options that will correct the abnormalities in the stem cells and, hopefully, one day in human patients as well.
In Their Words: “I always liked science growing up. I knew going into college I wanted to be a scientist, but I had not decided on neuroscience at that point. My dad pointed out that neuroscience was a very cool field and was exploding at the time. I took an introduction to neuroscience course and that led me down this path. The other part of it, my two grandfathers suffered from Alzheimer’s Disease and Parkinson Syndrome, so they affected our entire family. So there was also a personal connection aspect of it for me.” – Dr. Kathryn Hixson
Growing up in Logan, Utah, Dr. Hixson always had a love for science and knew fairly early that was the career path she wanted to pursue.
What the competitive swimmer growing up didn’t know was whether she wanted to take the medical doctor route or PhD path and work in a research lab.
It was a toss-up going into her freshman year at BYU, but time was on her side. Then Dr. Hixson attended a freshman orientation session and it illuminated the path she really wanted to pursue.
“It was my first week of college, and a professor that was running the orientation said the perception is PhD scientists don’t have as much of an impact because they aren’t at the bedside dealing with the diseases,” said Dr. Hixson, who is married with a 4-year-old son and their second child, a daughter, is due in April. “I remember him telling us that PhD scientists and the work they are doing is helping tens of thousands. That made me understand better the path I wanted to follow.”
After graduating from BYU, where she did a mission trip to Argentina for 18 months, Dr. Hixson set out to pursue her PhD in neuroscience.
Dr. Hixson’s passion for the brain was driven by her family being impacted by each of her grandfathers battling a neurological disorder and, generally, the complexity of the brain itself.
And that led her to Boston – a city she had always dreamed about living in – and an investment of eight years obtaining her PhD from the Boston School of Medicine.
“My Dad (Russell Price) kind of suggesting neuroscience started the clock ticking,” said Dr. Hixson, who is one of five children, is a passionate cake decorator and enjoys competing in triathletes. “By the time I was taking the introduction course, I knew this was what I was going to do. It was an amazing organ that controls everything that we do. The range of the brain was fascinating to me.
“Today we have so many more treatments and we can do so much to limit the impact of neurological disorders. We are able to make a patients’ lifestyle better. The old thinking for neurological disorders was to help them out until they eventually die. That seems like a tragic diagnosis for me to hear. We are learning more about understanding the diseases that are mostly understood and can treat them.”
Dr. Hixson was nominated for a 2020 Uplifting Athletes’ Young Investigator Draft research grant on behalf of the Malan Syndrome Foundation. The Malan Syndrome Foundation was co-founded in 2018 by four moms looking to raise awareness, grow the community and increase understanding of Malan syndrome. The Malan Syndrome Foundation provides a broad network of support to Malan patients, their family members, caregivers and healthcare professionals through the Foundation’s website, social media platforms, newsletters and family conferences. The Foundation is committed to identifying the best research approaches for improved patient care so that all affected individuals have the opportunities and support necessary for full, happy lives.