How an urgent call from a family in Italy changed this scientist’s career

A concerned father from Italy changed my scientific career. He messaged me because his children showed signs of nerve degeneration. He offered to meet me in New York.

Coffee turned into lunch with the family. They wanted to know if I could help the kids. I said I couldn't. I was an expert in viruses, not neurodegenerative diseases.

While studying infection as an early career researcher, I found a mutation in a gene linked to ALS. The news reported on it. That was how the father had found me and my work.

He got me thinking. Should I do more to help? I talked to doctors. I learned how little is known about how ALS works.

While strolling and debating whether to shift my research focus to ALS, I bumped into an ALS benefit walk. I'm not superstitious, but this seemed like a sign. Or maybe I drank too much the night before, and this was a dream!

Whatever it was, I pivoted. I teamed up with CZI-supported scientists from diverse fields.

We study biological changes in mice with mutations related to ALS and rare childhood diseases. We partner with clinicians who see patients with the same mutations.

Recently, our collaboration found an abnormal immune response in people with a genetic form of ALS (ALS4) that usually starts in adolescence.

I still talk to that father. I still tell him I can't cure his kids. But I can give him cautious hope: that our fundamental research will one day light the way to treatments.