Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we will assume that you are happy to receive all cookies and you will not see this message again. Click 'Find out more' for information on how to change your cookie settings.

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).

Similar stories

Gero Miesenböck to deliver The Physiological Society's Annual Review Prize Lecture

Awards and Honours CNCB

The Annual Review Prize Lecture is The Physiological Society's most prestigious lecture.

New target identified to develop treatment for Abdominal Aortic Aneurysm

Cardiac Theme Publication Research

A new study from the Smart group has shed light on a key regulatory step in the initiation and progression of Abdominal Aortic Aneurysm by revealing the protective role of a previously little known small protein.

Earliest origins of the forming heart identified

Cardiac Theme Postdoctoral Publication Research

The earliest known progenitor of the outermost layer of the heart has been characterised for the first time and linked to the development of other critical cell types in the developing heart in a new paper from the Srinivas group led by BHF Immediate Fellow Dr Richard Tyser.

Lukas Krone to represent Oxford at the Global Young Scientists Summit

Awards and Honours EDI News Head of Department's News Students Vyazovskiy Group News

Congratulations are in order for Dr Lukas Krone who is one of just five University of Oxford researchers selected to attend the Global Young Scientists Summit 2021.