OMRF scientist earns new grant to help prevent birth defects

In some kinds of disease, the only cure is prevention. A new grant from the March of Dimes will help OMRF scientist Roberto Pezza, Ph.D., understand the origin and search for ways to prevent diseases including Down and Klinefelter syndromes.

Pezza studies the mechanics of cell division with a focus on homologous chromosomes—the pairs of chromosomes inherited from a mother and father.

“To create stability during cell division, chromosomes from both parents match up and connect to each other as a consequence of a process called recombination,” said Pezza. “Not only does this help the DNA divide correctly, it also shuffles genes from both parents together.”

His work has earned a three-year, $300,000 grant from the March of Dimes to study a protein called SHOC1 that is vital to recombination.

“Without SHOC1, homologous chromosomes do not segregate properly,” he said. “This causes aneuploidy—when a cell has the wrong number of chromosomes—and can lead to infertility or severe birth defects such as Down syndrome.”

Pezza said the protein may also play a role in tumorigenesis—the beginnings of cancer.

The funds from the March of Dimes will be dedicated to the study of preventing birth defects, he said.

“Unfortunately, with diseases like this, once the chromosomes are separated incorrectly, it can’t be changed,” he said. “What we can do by understanding the basis of these genetic errors is to find ways to prevent them from occurring.”