Associate Professor Head
Laboratory of Genome Maintenance
The Rockefeller University
We study tumors from patients with Fanconi anemia, a genetic disease where DNA repair is disabled and this leads to development of cancer in children and young adults.
Identification of abnormalities in the tumors using novel approaches will lead to exceptional insight into how cancers develop and how cancers might be better detected and treated.
“The Role of Genome Instability in Driving Tumorigenesis”
DNA, which stores all of our genetic information, is constantly being damaged by environmental sources such as sunlight or from byproducts of normal processes within each cell. If unrepaired or misrepaired, DNA damage may result in mistakes, which in turn can lead to cancer. We study humans who do not possess the full capacity to repair the DNA due to the genetic disease called Fanconi anemia.
“The most important aspect of the award is the fact that it will directly cover the costs of a new and very important project in my lab. It is really difficult to obtain funding for something new when you have a sound idea but no preliminary data. This project is also outside of what we usually do in the lab so it really takes the entrepreneurial spirit of the Pershing Square Sohn Prize to give me confidence that although risky, this project is worth pursuing. I am also very much looking forward to interacting with the other awardees. I have had foundation support before for my research and meeting others with similar interests is invaluable in acting as catalysts for future research projects”
They are predisposed to the development of cancers including a type of blood cancer called acute myelogenous leukemia (AML), cancers of the head and neck, as well as vulvular and cervical cancer in women. We propose to determine how cancers develop in this group of patients by identifying all the permanent changes that occur in Fanconi anemia tumors and to study how these changes lead to cancer development. We have access to a unique resource, a patient database called the International Fanconi Anemia Registry (IFAR), that provides us with blood and tumor samples from Fanconi anemia patients from around the globe. These samples will be sequenced using the latest technology supplied by the New York Genome Center. Any identified changes will be compared with those identified in sporadic cases of cancer in the general population with the goal of identifying both similar and unique changes that would provide information about how these cancers develop and how they might be better treated. The second part of the project will concentrate on studying the identified changes and determination of how they contribute to cancer development.
“Innovation is a vital force behind research. For this particular project the innovation is bringing the latest technologies in genome sequencing and stem cell science to our unique patient population with a genetic predisposition to cancer. We expect to create fundamental knowledge, which will be applied to diagnosis and treatment of cancers in the general population.”