Which rare diseases does your lab study?

We study Cornelia de Lange Syndrome and Roberts Syndrome.

Cornelia de Lange Syndrome (CdLS) is characterized by slow growth of affected individuals before and after birth leading to short stature, intellectual disability that is usually moderate to severe, and abnormalities of bones in the arms, hands, and fingers.

Roberts Syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in about half of all people with Roberts Syndrome.

How did you first become interested in your research related to these diseases?

We were already studying chromosome biology in budding yeast, and then studies were published that several genes we had been investigating (Nipbl, Esco) were mutated in CdLS and Roberts Syndrome. Studying these genes in research organisms allows us to understand what some of their fundamental functions are and how mutations disrupt these functions.