Martin Walschburger Hurtado Studying Stone Man Disease through Research Collaboration between Kent State Stark and Walsh University

For the past seven years, Dr. Dinah Qutob of Kent State University at Stark and Dr. Adam Underwood from Walsh University have partnered to guide Stark County undergraduate students pursuing careers in biology, instilling in them a comprehensive understanding of how biological networks transition between health and disease states. Currently, they are collaborating through the Undergraduate Research Program to study the molecular mechanisms underlying rare diseases. Their recent work involves student research on the impact of specific proteins in cancer, as well as a genetic mutation that causes stone man disease.

Qutob and Underwood teach and mentor groups of up to 10 Kent State and Walsh students each year, providing them with essential skills needed for post-graduate programs in biomedical specializations such as neurobiology, immunology, molecular pharmacology and therapeutics. The students contribute as co-authors on peer-reviewed scientific papers and give presentations at regional and national conferences to showcase the impact of their work. The faculty pair recently applied for the National Institute of Health Research Enhancement Award (R15) which, if granted, will provide continued funding of the program. The NIH is the largest funder of medical research in the world.

The duo mentors a diverse student population and also prioritizes inclusivity with research to make a positive impact on the global community.

“It’s truly inspiring to witness the mutual support among our students. Our more senior, experienced students step up to mentor and train incoming students,” Qutob noted. “We have a diverse representation of undergraduates from various backgrounds, all united in their dedication to hard work and teamwork.”

Martin Walschburger Hurtado at research conference

One standout student in the program is Martin Walschburger Hurtado who graduated with a Bachelor of Science degree in organismal biology last December and aspires to earn a doctorate degree in mycology, the study of fungi.

Martin focused his research on the ACVR1 gene that is implicated in the pathogenesis of Fibrodysplasia Ossificans Progressiva (FOP). FOP, more commonly known as stone man disease, is the result of a rare genetic mutation within the ACVR1 gene that causes soft tissues such as muscle, tendons, cartilage, ligaments and connective tissue to undergo abnormal ossification and form more bone tissue. This disease has serious and potentially life-threatening complications, such as the progressive fusion of joints, and seems to occur most often in people from the United States. While there are currently no known treatments, fully understanding FOP is crucial to eventually developing effective treatments.

The research on this genetic mutation is still in the beginning stage, yet the team already effectively cloned the mutant and native forms of the ACVR1 gene into an expression vector, and successfully transfected eukaryotic cell lines. This helps researchers better understand the mutation’s biological implications in the development of life-altering complications and, hopefully, lead them to developing possible preventative measures.

Martin’s experience in the research program provided numerous lessons for him. “It shows that, while things are hard and even complicated, working, enduring and persevering through them allows you to accomplish things beyond what you thought you were capable of,” he reflected. “It’s fun and if you enjoy a challenge, I encourage people to go into it and experience it. It’s nice to have faculty that supports you and that you can work with, because that’s the greatest way to get undergraduate research under your belt.”

This undergraduate research project is also attracting attention from others in the scientific community, including two scientists from the Federal University of Minas Gerais in Belo Horizonte, Brazil: Dr. Helen Lima del Puerto, an expert in SOX research, and Dr. Almir Martins, specializing in ACVR1 research. They are currently collaborating with the program and guiding participants by sharing their experiences with scientific inquiry and research.

POSTED: Sunday, April 28, 2024 08:38 PM
Updated: Sunday, April 28, 2024 08:58 PM
Lauren Carpenter, Kent State Stark Student