CELS professor discovers genetic link in rare childhood disease

Researcher discovers novel connection between Fanconi anemia, PTEN

 

FA-team-Pell-Bridge
Fanconi anemia patients, family members and URI students gathered last month to compete in the Pell Bridge Run, a 4-mile charity run from Jamestown to Newport to raise money for the Fanconi Anemia Research Fund, which provides education and support services to families affected by the rare childhood disease. URI researcher Niall Howlett is at the far right. (Photo courtesy of Niall Howlett)

KINGSTON, R.I. – November 29, 2016 – A team of researchers led by a University of Rhode Island scientist has discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia, and a major cancer gene called PTEN. The discovery improves the understanding of the molecular basis of Fanconi anemia and could lead to improved treatment outcomes for some cancer patients.

According to Niall Howlett, URI associate professor of cell and molecular biology and Rhode Island’s leading expert on Fanconi anemia, the disease is characterized by birth defects, bone marrow failure and increased cancer risk. He said the genes that play a role in the development of the disease are also important in the development of hereditary breast and ovarian cancer.

Howlett’s new study now establishes a molecular link between Fanconi anemia and a gene strongly associated with uterine, prostate and brain cancer. This research was published this month in the journal Scientific Reports, with URI graduate student Elizabeth Vuono as lead author.

About 1 in 150,000 children in the United States is born with Fanconi anemia.

“People often ask why we study such a rare disease,” said Howlett, who has been studying Fanconi anemia for nearly 20 years. “First and foremost, there is no cure or effective treatments for it. So a greater understanding of the molecular basis of Fanconi anemia is critical to address this need.”

In addition, Howlett said there are countless examples of how the study of Fanconi anemia has greatly benefited the general population. The first umbilical cord blood transplant, for example, was performed with a Fanconi anemia patient. Bone marrow transplants have become much safer and more effective because of studies with Fanconi anemia patients. And new breast and ovarian cancer genes have been discovered as a result of studies on the molecular biology of Fanconi anemia.

Howlett’s current research is another example of the broader impact of Fanconi anemia studies…[Read more]