I wanted to be a Vermont country doctor but got waylaid by three little girls, sisters from an Amish family, who suffered from a rare, degenerative disease called pantothenate kinase-associated neurodegeneration (PKAN). My heart broke for them, and I wanted to help, so I found myself digging into genetic research. Had you told me I would end up a research scientist, I would have laughed, but I landed in the right place.
Path to Bryn Mawr
My mother suggested that I interview with Bryn Mawr. I liked it immediately, though my decision to attend was less about Bryn Mawr and more because it was far from home and not what my family expected me to do, which was to attend Stanford, where my father taught and my brother and sister were going. That said, it was one of the best decisions I ever made. It’s a small school where I got a lot of attention, was challenged by a great faculty, and took full advantage of the Bi-College relationship with Haverford College. It was the right choice for me.
Radnor. I only lived there during my freshman year, but the friends I made
are still among my closest.
Volleyball all four years, during the “kilt phase” in Bryn Mawr Athletics.
Your Work Today
I have dedicated my career to finding a therapy for PKAN, the most common form of a group of disorders known as neurodegeneration with brain iron accumulation. Those sisters were from an extended family with about 10 children who were afflicted. My colleagues and I went gene-by-gene in their genetic line—this was before the Human Genome Project—and
once we isolated the mutation, we developed a therapy that’s been successful in animals, and we’re gearing up for human studies. Our goal is to change the outcome of this disease.
How did Bryn Mawr influence your work?
I learned to value my intellect. That’s not always encouraged in women. Even today, as a respected scientist and chair of an academic department, I still find myself having to occasionally elbow my way into a conversation between two male colleagues. And I do it with confidence because Bryn Mawr took that factor out of the equation during my formative years and prepared me to blaze paths. That is a strength of a women’s college.
How do You Defy Expectation?
We’re pursuing this research with grants and philanthropy and explicitly without involvement of the pharmaceutical industry. Our goal is for this therapy to reach the people who need it as soon as possible and without regard to profit. We believe that’s the right thing to do. For me, it stems from a social conscience nurtured at Bryn Mawr.
I had planned to retire once this disease is cured but now have others I want to tackle.
Learn more about Susan’s research at NBIAcure.
Photography by Penelope Hogarth, Professor of Molecular and Medical Genetics and of Neurology, OHSU.