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A new collaborative project led by the Swietach group funded by the Propionic Acidemia Foundation will investigate the disease mechanisms and risk factors for cardiac disease caused by a severe inherited disorder.

Pawel SwietachPropionic acidemia (PA) is an inherited metabolic disorder affecting newborns and children in which the body cannot break down parts of protein and some types of fat. This inability causes a build-up of harmful substances such as propionic acid in the blood which can cause seizures, delays to normal development like walking and talking, and other health problems. 

Cardiac problems are common in PA, and dilated cardiomyopathy and long-QT syndrome are often the cause of childhood death. In order to treat and prevent these cardiac problems, it is necessary to understand the underlying mechanisms. Professor Pawel Swietach has been awarded a research grant from the Propionic Acidemia Foundation to learn more about these mechanisms and, once processes are described, identify targets for drugs or other interventions. According to Professor Swietach: "We believe that this ambition is achievable thanks to the wealth of knowledge about the heart and the vast repertoire of drugs approved for therapy in various other cardiac conditions. Many of these drugs could be “repurposed” for PA-associated disorders, giving hope to many families for a timely treatment."

Professor Swietach will be collaborating with Tom Milne, Associate Professor in Epigenetics at Oxford, Holger Kramer, an expert on proteomics, and Steve Krywawych, principal biochemist at Great Ormond Street Hospital in London. 

More information about the PAF award can be found in the Propionic Acidemia Foundation newsletter Spring 2021 (page 2).

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