Sabrina Fox

Supervisor: Rachel Wevrick

Project: Genetic origin of arthrogryposis

Degree program:

Medicine & Dentistry-Medical Genetics

Lay abstract:

Arthrogryposis is a disease that occurs in 1 in 3,000 infants. It’s characterized by a permanent shortening of the muscles and joints, resulting in an inability for the joints to rotate. This can dramatically lower the quality of life for affected children. Arthrogryposis can be caused by maternal viral infections, abnormal changes to the amniotic fluid and mutations that are inherited genetically. These mutations can cause changes in the shape and function of proteins involved with joint formation, therefore causing an increase or decrease in protein activity. If a protein becomes too active, it could become toxic to the cell, which may cause more problems than having none of the protein at all. MAGEL2 is a gene that, when mutated in a specific way, produces a protein that exerts a toxic effect on developing joints, bones and muscles. By studying how this toxic MAGEL2 protein interacts with other proteins in the cell, we can better understand how it causes the shortening of muscles and tendons during embryonic development, thereby leading to arthrogryposis. This understanding could potentially be used to produce therapies for arthrogryposis that specifically target MAGEL2 or other proteins that it interacts with, therefore increasing the quality of life of infants affected by arthrogryposis.

What motivated you to participate in this research?

The size and complexity of the human genome is astounding. This complexity, however, makes understanding the origins of human genetic disease very difficult. I’m personally interested in the biological research that attempts to unravel this complexity and decipher how human genetic diseases occur. My fascination with human genetic disease, and the research that is associated with it, is what has motivated me to pursue this summer research project. Additionally, I would like to become a very well-rounded scientist that has experience in many of the techniques.

What are your career aspirations?

I would like to pursue a post graduate degree after I finish my undergrad. I would like to eventually become a researcher that studies genetics, cell biology and/or developmental biology with a focus on human genetic disease.

How has this studentship helped you toward those aspirations?

Working in the Wevrick Lab has allowed me to expand both my technical and professional skill sets. Success in academia is generally dependent on gaining independent research experience, networking with relevant researchers and communicating research through publications, abstracts and presentations. Participating in this summer studentship has greatly improved my ability to interpret, understand and communicate biological research and has exposed me to some of the biomedical research that is done here at the university. Additionally, this summer studentship has given me the opportunity to learn new techniques and expand my technical knowledge; I was able to work with stable cell lines and perform biochemical and cellular assays, both of which I had little to no experience with before. I’ve become better versed in the common techniques that are used in biomedical research, which will aid in my pursuit of graduate studies in the biomedical field.