How can mutations in one supposedly single-function protein result in four unique diseases with symptoms ranging from strangely textured hair to early death?

That’s the question that biochemistry professor Rachael Baker and biology professor Amy Wilstermann are seeking to answer through three linked research projects this summer. Working with three student researchers to conduct experiments on the mitochondria of yeast and zebrafish, the professors are examining the effects of mutations in the protein’s gene to determine its other roles within the cell.

By discovering how each mutation results in each disease, Baker says they hope to more fully understand the mitochondrial system, leading to both “better treatments for people affected by rare diseases and a better understanding about health and wellness in general that could lead to treatments for things like cancer and other disorders.”

Beyond the lab

Baker and Wilstermann, however, view these direct applications as only one step in the larger process of improving the lives of those with rare diseases.

“There’s just a lot of uncertainty [around rare disease]; even when you get a diagnosis, you might not know what the prognosis is,” said Wilstermann. She and Baker aim to help remedy this through two key routes: improving the readability of scholarly work on rare disease and providing a website to collect information for patients and their families.

During the summer, Wilstermann says, the students will work toward both goals by reviewing the literature around a specific rare disease and writing a condensed summary for the website, giving them practice in “taking really complicated ideas and mak[ing] them accessible but still completely accurate.” Wilstermann says that the students will most likely start by covering the diseases which were represented at the rare disease symposium (in March 2018) and are present in the local community.

The website is broadly intended to function as a network for members of the rare disease community, including patients, families, clinicians, and researchers. “We want it to be a place where we can connect people with resources; we want it to be a place where people can connect with one another,” Wilstermann said. “There’s opportunity to bring people together and help build a supportive community around common experiences, and the common experience of being rare.”

A faith-driven approach

“This project, for me, encapsulates why I came to be a professor at Calvin college,” said Baker. “The way we do science looks different here,” she added. “We eat together each week, we value each other, and we [work] in a body of Christ model where different people have different strengths and interests [which we] bring together to be a functioning whole. We’ve employed various practices that are really rooted in Christian principles, and we’ve used those to shape how we run our research team.

“To me," Baker said, "it’s really exciting that I get to do that and think about it explicitly."