URI_Research_Magazine_Momentum_Winter_2015_Melissa-McCarthy

by Becca Trietch

Life is an injurious thing Every day our bodies are bombarded by harmful radiation and exposed to toxic substances that damage the DNA of our cells. If left to accumulate, this damage can result in cellular dysfunction including cancerous growth. patients suffering from a rare inherited disease called Fanconi anemia (FA), these DNA repair mechanisms appear to be broken.

“This is a recessive disease, so both parents are usually completely healthy on their own, but suddenly, they end up with an extremely sick child and very few treatment options,” explains University of Rhode Island (URI) cell and molecular biology Associate Professor Niall Howlett. Motivated by patients, families, and clinicians, Howlett focuses his research on two FA proteins that are directly involved in DNA repair: FANCD2 and FANCI. FANCD2 is Fanconi

FA is a recessive, genetic disorder resulting in physical growth abnormalities, bone marrow failure, and an increased susceptibility to cancer. Although major progress in bone marrow transplant techniques can extend the life expectancy of many patients into their early 30s, few other treatments are currently available.

Luckily, the normal human body is extremely effective at repairing these DNA injuries. However, for

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