Name: Agata Smogorzewska, PhD
Institution: The Rockefeller University, New York, United States
Area of expertise: DNA Repair
My lab works on diverse aspects of Fanconi anemia (FA) and repair of DNA. A lot of our work starts with samples from FA patients. We identify new genes and new mutations that may explain how different patients present and progress; for example, why they get bone marrow failure early or late in life, and why they develop cancer. We strive to understand in great detail how the DNA repair processes work in FA and non-FA cells. A strong component of our work is to study the tumor samples from people with FA to understand how the cancers develop, so we can help identify them early and find better treatments.
I became interested in Fanconi anemia due to the critical function of FA proteins in DNA repair. Quite accidentally, I discovered a Fanconi anemia gene (FANCI) when I was characterizing unknown proteins participating in DNA repair in Steve Elledge’s laboratory at Harvard. My clinical training exposed me to Fanconi anemia but going to my first FARF Symposium really opened my eyes to all of the unanswered questions in the field.
Meeting families affected by FA was also remarkably motivating for me to continue to be in this scientific field. I was thrilled to be offered an independent position at The Rockefeller University which was the home of the International Fanconi Anemia Registry started by Dr. Arleen Auerbach in 1982. The registry provided me with cell lines from patients who did not know their mutations which allowed us to identify new FA genes and study how they work in DNA repair. Now, we have multiple ongoing studies that use the samples in the registry.
I believe that it is our duty to use what was gathered over the last 36 years to understand the disease better and provide some answers to the families who contributed their cells and clinical information. Our most recent work on cancers is motivated by meeting people with FA and FA families affected by cancer. It feels very personal to know the people behind the samples in the registry. There is no single day that I don’t think about Amy (Frohnmayer Winn), Chris (Byrd) and others with FA who have lost their battle with cancer.
In one of the great art institutions in New York: the Metropolitan opera, the NY Philharmonic, the Carnegie Hall, the Metropolitan museum or the Frick Collection. I also like just walking in New York and getting energized by the city.
The FA families are my heroes. Your resilience always amazes me and motivates me in daily life. You are also such great advocates for research on FA. Your support of our research through participating in the registry and through supporting FARF, which provides us with funds to perform studies with cancer samples, is essential and deeply appreciated.