FLORENCE, AL - University of North Alabama Student Leah Buck spent her 2018-19 academic year doing cutting edge work on genetic variant interpretation on Bainbridge-Ropers syndrome, which is a neurological condition. This singular opportunity came as a result of a UNA and Huntsville, Ala.-based HudsonAlpha Institute for Biotechnology program known as Characterizing our DNA Exceptions, or CODE.

The UNA CODE project has involved almost 20 students and was organized by Dr. Cynthia Stenger, a professor of mathematics at UNA and is team taught by Dr. Stenger and Dr. Jillian Stupiansky, an associate professor of mathematics at UNA. The partnership includes a collaboration with the Prokop Lab at Michigan State University.

"We are grateful for our partnership with HudsonAlpha and the Prokop Lab," Dr. Stenger said. "Because of this collaboration, students at UNA engage in innovative, cutting edge, bioinformatics research with one of the top bioinformatics groups in the United States and the top tier Prokop Lab at Michigan State University. This unique opportunity gives our students a window into this increasingly influential scientific discipline."

Leah's work on the gene ASXL3 that contributes to Bainbridge-Ropers syndrome led to a unique opportunity to carry out an internship at Michigan State University within the department of Pediatrics and Human Development. Throughout the summer, she has performed various experiments to begin understanding the role of ASXL3 in the brain.

"Leah came to our lab and brought a wealth of knowledge of ASXL3 that allowed for the development of several tools to dissect the role of ASXL3 in brain development," said Dr. Jeremy Prokop, the principal investigator with whom Leah worked at Michigan State. "In addition, these tools will give us the ability to more accurately interpret variants within ASXL3, including those seen by the HudsonAlpha sequencing projects."

While at Michigan State, Leah also developed several educational tools using 3D printing and case studies that were performed at HudsonAlpha. These initiatives were sparked by her passion for becoming a genetic counselor.

"I see these tools being applied in genetic counseling sessions to give patients the ability to better understand their disease," Leah said. "The models can also be used in classrooms to explain the biology of genetic disease."

These models will be used in additional CODE training, forging a stronger partnership between UNA, Michigan State, and HudsonAlpha. Further, the continued development of these tools is critical for the growing genomic initiatives of precision medicine.

About The University of North Alabama

The University of North Alabama is an accredited, comprehensive regional state university offering undergraduate and graduate degree programs through the colleges of Arts and Sciences, Business, Education and Human Sciences, and the Anderson College of Nursing and Health Professions. Occupying a 130-acre campus in a residential section of Florence, Alabama, UNA is located within a four-city area that also includes Muscle Shoals, Sheffield, and Tuscumbia. UNA Athletics, a renowned collegiate athletics program with seven (7) Division II National Championships, is now a proud member of the NCAA Division I's ASUN Big South Conference. The University of North Alabama is an equal opportunity institution and does not discriminate in the admission policy on the basis of race, color, sex, religion, disability, age, or national origin. For more: www.una.edu and www.una.edu/unaworks/