Research Leads To Genetic Disease Discovery

A new genetic disease has been identified with the help of an Indiana researcher.  DHPS Deficiency is caused by a mutation of an enzyme called DHPS.

Indiana Biosciences Research Institute senior scientist Dr. Teresa Mastracci was on a national team of researchers who identified the disorder. 

"DHPS or deoxyhypusine synthase is a gene and a protein that is found in every cell in the body," says Mastracci. 

The discovery of the rare genetic disease was made through work with a small group of mostly children. They experienced neurodevelopmental delays and seizures.   

"What it’s telling us is in the brain, it’s really critical to have fully functioning DHPS enzymes," says Mastracci. "And if you don’t have fully functioning DHPS enzyme in the brain then you see these neurological effects."

The discovery has led to the DHPS Foundation to help other families.  

"I think it must be incredibly frustrating to have a disease and not understand it or know why," says Mastracci. 

The finding could lead to inclusion for infant screening and research for treatment.