Advocacy efforts play an essential role in building stronger systems of care for rare diseases. By elevating the experiences of families and engaging policymakers, organizations such as the Ivan & Joan Foundation are helping move rare disease awareness and care forward in their communities.
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Sharon Cantor
Associate Professor | PhD
My laboratory focuses on understanding how tumor suppressor proteins function to maintain genomic integrity and suppress cancer. In particular, we focus on the hereditary breast and ovarian cancer genes, BRCA1, BRCA2 and the BRCA1-associated helicase, FANCJ (BACH1/ BRIP1). Bi-allelic loss of these genes also causes Fanconi anemia (FA), a rare chromosomal instability and cancer syndrome. Our work on FANCJ revealed that DNA repair defects underlie both hereditary breast cancer and FA. Currently, we are employing biochemical and whole-genome screening technologies, to uncover mechanisms regulating DNA repair choice and how cancer cells evade toxic chemotherapies.
FA Research Projects
| Year | Project |
|---|---|
| 2020 | A small molecule approach to overcome replication dysfunction in FA |
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My name is Kambri, and I’m 17 years old. I was diagnosed with Fanconi anemia when I was five. Before my diagnosis, I just didn’t feel good for a while. I had frequent nosebleeds, bruised easily, and was tired a...
What I hope for most is a cure. And until then, I hope for Paige and others with FA to live lives as close to normal as possible, filled with opportunity, independence, and happiness.