Three years ago, Ethan Smith watched his aunt deteriorate from a rare neurological disease – amyotrophic lateral sclerosis (ALS) also called Lou Gehrig’s disease. That experience inspired him to do lifesaving medical research. A recently awarded research fellowship from the Huntington’s Disease Society of America is helping him to realize his dream.
“What I found the most difficult to cope with wasn’t the fact she was dying, it was the fact that I could do nothing about it,” he said. “So, when I was given the opportunity to conduct research on Huntington’s disease, for the first time in two years, I felt like I could be part of a solution.”
Smith, a sophomore getting his bachelor’s in biomedical sciences, is one of two UCF College of Medicine students who were recently awarded the 2018 Donald A. King Summer Research Fellowship by the Huntington’s disease organization. The other is first-year medical student Jake Friedman. The UCF students are two of only four nationally to receive the fellowship that aims to support young scientists in doing meaningful research on Huntington’s disease – a rare, hereditary neurodegenerative disorder affecting approximately 30,000 Americans. Huntington’s is fatal and causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities during their prime working years and has no cure. Every child of a parent with HD has a 50/50 chance of inheriting the faulty gene that causes the disease. The symptoms of HD have been described as having ALS, Parkinson’s and Alzheimer’s diseases – simultaneously.
The two will work under the guidance of Dr. Amber Southwell, assistant professor and neurosciences researcher at the College of Medicine’s Burnett School of Biomedical Sciences.
Smith will investigate the mechanism in which the huntingtin gene – a protein associated with Huntington’s disease – enters the cerebral spinal fluid in mouse models.
“By understanding how the huntingtin gene makes its way to the cerebral spinal fluid, we will be able to better understand data from clinical trials on Huntington’s disease and develop more efficient therapeutic targets,” Smith explained.
Smith, a participant in UCF’s EXCEL/COMPASS program which provides research experience for undergraduates, says the fellowship is a major bolster toward his ultimate goal of developing new and effective solutions for neurodegenerative diseases.
“I wasn’t only awarded a fellowship, I was awarded the platform to directly impact the lives of patients and families affected by this unforgiving disease, something I couldn’t be more thrilled to be a part of,” Smith said, who wants to enroll in a joint M.D./Ph.D. program after completing his undergraduate studies. “Just as it takes a village to raise a child, it takes a community to make a change, and I want nothing more than to be part of that community.”
Friedman’s project will investigate men who carry the Huntington’s trait to determine if their age at conceiving children affects the rate of transmitting disease or a more severe form of the disease to the child. His project began as a part of Focused Inquiry & Research Experience (FIRE) module, which requires all UCF medical students to do scientific research.
“For those who have been tested and know they carry this trait, the decision to have children can be scary and daunting,” Friedman explained. “We want to investigate if parental age plays a role in the transmission of a disease that will affect their children earlier and harder. We hope that we can find evidence to support in vitro fertilization, or better yet that aging plays no role.”
Dr. Southwell, who has been working to develop therapies for Huntington disease since 2002, says the fellowships underscore the importance of UCF’s student research programs.
“I am so proud of Jake and Ethan and thrilled that their hard work and passion for biomedical research has been recognized in this way,” she said. “This award will help them to focus on their research this summer working on innovative translational projects with the potential to have a direct impact on patient’s lives. For these young researchers who are dedicated to solving problems related to human health, this will be a deeply meaningful experience and I feel lucky to be able to guide them on this journey.”
Smith, Friedman and other fellows will present the outcomes of their projects at the HDSA Annual Convention in the summer of 2019.
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