There is a plaque outside our lab dedicating our research efforts to the memory of a girl named Harper.

We were introduced to Harper by a medical geneticist at Spectrum Health when we had recently started collaborating on rare disease research. Our research focuses on rare diseases that are caused by the dysfunction of mitochondria, subcellular structures that play a critical role in energy production in cells.

WHY WE DO WHAT WE DO.

Harper had a mutation in the mitochondrial protein that we study, BCS1L. This mutation had not been observed in any other patients, and the medical geneticist had a very common but deceptively challenging question: Is the mutation in BCS1L responsible for Harper’s symptoms?

Using structural modeling, we determined that the BCS1L mutation was indeed the likely cause of Harper’s symptoms. While useful for diagnostic purposes, this information provided little help. There are no treatments for Harper’s rare disease. Sadly, Harper passed away, but important questions about diagnosing and treating rare diseases like hers remain.

We are still studying Harper’s mutation in our yeast model system to learn more about its role in cell function. We hope this knowledge may eventually lead to a treatment.

WE’RE DIFFERENT NOW.

When we began our project, we hoped that our work would impact patients in the rare disease community. What we did not anticipate was the impact that rare disease community members would have on us.

Stories from patients like Harper and their families changed us. Their resilience is inspiring. Our interactions have shaped the way we think about our work as scientists, research mentors, and teachers.

We have begun to incorporate patient stories into our teaching in the lab and classroom. For example, students learn about Harper through a reflection her mother wrote. We encourage students to be attentive to the unique challenges faced by the people they serve through their work in a research setting, a health care setting, or in their community.

While each rare disease has a different underlying molecular cause and a different set of resulting symptoms, the experience of being “rare” has many common elements. We are passionate about investigating a particular set of mitochondrial rare diseases, and we are also passionate about building community and support around the common experiences of rare disease patients and family members.

YOU HAVE A ROLE TOO.

The Rare Calvin website, calvin.edu/research/ rare-disease, contains information about our scientific endeavors and educational resources for students, patients, families—and you. Research students conduct important experiments in the lab and they partner with us on educational and outreach projects that support the rare disease community.

In addition, Elle Hazlett ’21 served on the leadership team with us that established the Rare Disease Network, a collaborative effort between Calvin, Spectrum Health, MSU, and GVSU that aims to connect rare disease researchers and care providers in west Michigan. The goal is providing excellent care and support to those affected by rare diseases.

When we started our collaboration, we might have considered raising student awareness of rare disease challenges and support of the rare disease community tangential to our research goals, but now these are essential, missional, and fulfilling components of our work.

Rachael Baker ’08 is an associate professor in the chemistry and biochemistry department.

Amy Wilstermann is a professor of biology and is a director of the Honors Scholars Program.

To learn more about this research project and read a story written by Harper’s mother, visit calvin.edu/research/rare-disease/about/harpers-story/.