At PNRI, we believe studying rare genetic diseases not only leads to discoveries that save lives, but can also unlock mysteries surrounding more widespread illnesses.
PNRI’s Carvalho Lab focuses on rare diseases by exploring a new field of genetics that studies structural variants. Her lab’s work aims to understand how seemingly random changes in a person’s genes may contribute to whether or not they develop a particular disease.
When cells divide, small pieces of a gene can be lost, or other pieces duplicated. Sometimes those losses or duplications, referred to as structural variants, have little to no effect, and sometimes they can seriously impact a person’s health.
Dr. Cláudia Carvalho and her team focus on unpredictable shifts that can lead to disease, alterations in regions of the genome responsible for key functions of the human body.
Research conducted on Robinow Syndrome, a rare disease producing skeletal abnormalities, led to the groundbreaking discovery of four major genes which, when specific variants occur, result in the malformations unique to that disease. Now Dr. Carvalho is employing similar methodologies in studying other rare diseases, such as MECP2 Duplication Syndrome, in which complex genetic variant patterns produce neurological and developmental disorders.
The more that can be established about the genes that govern physiological development, the better equipped scientists will be to find and implement effective treatment.
“I am fortunate that my research into the causes of severe genetic diseases allows me to work closely with patients, families, physicians, and scientists from around the globe,” says Dr. Carvalho. “By uncovering the genetic causes underlying these diseases, I hope I can help them by promoting awareness about the diseases and diagnoses, and ultimately find treatments that will lead to better human health.”