Genetic Pathways Involved in Retinal Degeneration
Faculty Mentor: Sally Shivnan and Rivka Rachel
Retinal degeneration affects over 1.5 million people each year worldwide. Although we have mapped the genetic causes of the condition, the underlying cellular mechanisms behind photoreceptor cell death are not well understood. Homologous genes that trigger retinal degeneration have been identified in mice, allowing us to examine the biological changes that occur in a non-human species. We studied and grouped all the mutants according to rate and severity of photoreceptor function loss. This project analyzed tissue loss through cell morphology and histology, localization of phototransduction proteins by immunohistochemistry, and altered photoreceptor function by electroretinography. Our results indicate that mutants associated with rapid degeneration (rd1, rd4, rd10, rd16) control phototransduction and ciliogenesis. They generate missense mutations without terminating DNA translation and are linked to autosomal dominant retinitis pigmentosa in humans. On the contrary, mutants tied to intermediate (rd2, rd3, rd5, rd8) and slow (rd6, rd7, rd9, rd12) degeneration monitor general cell growth and development. They create base-pair deletions and substitutions that do cause premature termination of the polypeptide chain and result in autosomal recessive retinitis pigmentosa in humans. The goal is to identify mechanisms that we can apply to treat human retinal degeneration.
When and how did you find out that you could do independent research or creative work as a UMBC undergraduate?
Before I even entered UMBC. It was one of the things that drew me here; I’ve been doing research since before I came to UMBC.
Who is your research mentor?
My primary mentor is my supervisor at the National Institutes of Health (NIH). My project is actually the work I’m doing at NIH. My on-campus mentor Sally Shivnan (English Department) advised me while I was working on my manuscript.
Can you describe your research?
I’m researching the genetics of retinal degeneration. Researchers have found 16 mutants that degenerate the retina. While there is a lot of research done on the individual mutants, up until now, no one had combined the data and analyzed everything as a whole. The purpose of my project was to piece the segments together and see what insight that would provide into human retinal degeneration.
How much time did you put into this research? Did you have a background in this area?
I have worked on this project for the past two years. The 25 biology and chemistry credits I took built a nice foundation for me.
How does your research/creative work relate to your work in other classes?
It doesn’t. I’m an English major and I’ve finished my science credits. Science writing is poles apart from drafting English papers.
What has been the hardest part about your research/creative work? The most unexpected thing?
Being patient is the hardest part about research. Most unexpected: after I completed my project, the lab’s senior scientists asked me to write a manuscript (as first author) of a scientific paper that would be published in an international journal focusing on ophthalmology.
What is your advice to other students about getting involved in research?
Go for it. It’s more rewarding than you would think, and the experience sticks with you for the rest of your life.
What are your career goals?
I’m an English major and a double-minor in Political Science and Rhetoric & Communication. I’m going to start law school this fall.
How did you decide to present your work at URCAD this year?
I presented my manuscript at NIH last summer and my mentors encouraged me to present it here as well.
Was the application difficult to complete?