New Orleans — Louisiana State University Health Sciences Center researcher Ed Grabczyk has been awarded a $485,000 grant from the National Institutes of Health for a three-year study designed to better understand the mechanisms causing Friedreich’s ataxia (FRDA) and provide clues for possible therapies.
Mr. Grabczyk’s research is entitled "Mechanisms Contributing to Frataxin Deficiency." He plans to examine Friedreich’s ataxia at a basic molecular level focusing on how the FRDA repeat expansion lowers expression of the frataxin protein which is believed to be responsible for FRDA. His hypothesis is that at the molecular level transcription instigates dynamic structure formation within the GAA-TTC repeat that leads to reduced mRNA expression through multiple potential pathways.
"Once you define the mechanisms of Friedreich’s ataxia then you have a line on pathways for therapy," said Grabczyk.
Grabczyk is a former NIH researcher who moved to New Orleans four years ago to study Friedreich’s ataxia which has a higher incidence in the Acadian population living in Louisiana. He received two earlier grants from the Friedreich’s Ataxia Research Alliance that served as a foundation for the current work being funded by NIH.
"Ed’s research is fundamental to having a better understanding of Friedreich’s ataxia," said Fraser Goodmurphy, who introduced Grabczyk to FARA. "Ed’s work is immensely important and will be closely watched by researchers around the world."
This research could be essential to determining how the genetic mutation in Friedreich’s ataxia severely reduces the production of the frataxin protein. Grabczyk expects to begin work under the NIH grant in early November. His research has been delayed by Hurricane Katrina which damaged equipment at LSU’s Health Sciences Center in New Orleans and destroyed cell lines used in his research. He is in the process of recovering and recreating his earlier work.
There is no effective treatment or cure available for Friedreich's ataxia which is a hereditary disorder that often first becomes noticeable as a balance and coordination problem when children are in elementary school. Further loss of strength and coordination in all four extremities usually forces those with FRDA into wheelchairs by their teens, while the disorder impairs vision, hearing and speech as it progresses. It is frequently associated with severe heart disease, scoliosis, and diabetes. In the later stages of the disorder, patients are usually completely incapacitated, often dying of cardiac failure. Friedreich's ataxia, although rare, is the most prevalent inherited ataxia, affecting about 1 in every 50,000 people in the United States.
The Friedreich’s Ataxia Research Alliance (FARA) is a 501(c)(3), non-profit, charitable organization dedicated to accelerating research leading to treatments and cure for Friedreich's Ataxia (FRDA). http://www.FAResearchAlliance.org
President, Friedreich’s Ataxia Research Alliance